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Gorlin syndrome(BCNS; NBCCS; BCNS1)

MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Synonyms: Basal cell nevus syndrome; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Nevoid Basal Cell Carcinoma Syndrome
SNOMED CT: Gorlin syndrome (69408002); Nevoid basal cell carcinoma syndrome (69408002); Basal cell carcinoma syndrome (69408002); Gorlin-Goltz syndrome (69408002); Basal cell nevus syndrome (69408002); NBCCS - Nevoid basal cell carcinoma syndrome (69408002); BCNS - Basal cell nevus syndrome (69408002); Gorlin's syndrome (69408002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007187
OMIM®: 109400; 601309
OMIM® Phenotypic series: PS109400
Orphanet: ORPHA377

Disease characteristics

Excerpted from the GeneReview: Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average. [from GeneReviews]
Authors:
D Gareth Evans   view full author information

Additional descriptions

From OMIM
The basal cell nevus syndrome (BCNS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). Genetic Heterogeneity of Basal Cell Nevus Syndrome See also BCNS2, caused by mutation in the SUFU gene (607035) on chromosome 10q24.  http://www.omim.org/entry/109400
From MedlinePlus Genetics
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.

Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion.

9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.

About 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that are sometimes associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum).  https://medlineplus.gov/genetics/condition/9q223-microdeletion
From MedlinePlus Genetics
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.

In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.

Most people with Gorlin syndrome also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors. These tumors usually first appear during adolescence, and new tumors form until about age 30. Keratocystic odontogenic tumors rarely develop later in adulthood. If untreated, these tumors may cause painful facial swelling and tooth displacement.

Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors. A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of benign tumor called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) fibromas often do not cause any symptoms, but they may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a woman's ability to have children (fertility).

Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. These signs and symptoms are typically apparent from birth or become evident in early childhood.  https://medlineplus.gov/genetics/condition/gorlin-syndrome

Clinical features

From HPO
Rhabdomyoma
MedGen UID:
48445
Concept ID:
C0035411
Neoplastic Process
A benign tumor of striated muscle.
Fibroma of ovary
MedGen UID:
57706
Concept ID:
C0149951
Neoplastic Process
The presence of a fibroma of the ovary.
Cardiac fibroma
MedGen UID:
203335
Concept ID:
C1096654
Neoplastic Process
A fibroma of the heart.
Cardiac rhabdomyoma
MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
A benign tumor of cardiac striated muscle.
Ovarian carcinoma
MedGen UID:
1648335
Concept ID:
C4721610
Neoplastic Process
A malignant neoplasm originating from the surface ovarian epithelium.
Skin basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Short distal phalanx of the thumb
MedGen UID:
400023
Concept ID:
C1862313
Finding
Hypoplastic (short) distal phalanx of the thumb.
Irregular ossification of hand bones
MedGen UID:
870912
Concept ID:
C4025374
Finding
Odontogenic keratocysts of the jaw
MedGen UID:
313330
Concept ID:
C1708604
Neoplastic Process
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.
Hamartomatous stomach polyps
MedGen UID:
400021
Concept ID:
C1862304
Disease or Syndrome
Polyp-like protrusions which are histologically hamartomas located in the stomach.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Supernumerary ribs
MedGen UID:
83380
Concept ID:
C0345397
Congenital Abnormality
The presence of more than 12 rib pairs.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Down-sloping shoulders
MedGen UID:
346461
Concept ID:
C1856872
Finding
Low set, steeply sloping shoulders.
Parietal bossing
MedGen UID:
347377
Concept ID:
C1857126
Finding
Parietal bossing is a marked prominence in the parietal region.
Abnormal sternum morphology
MedGen UID:
349830
Concept ID:
C1860493
Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.
Bridged sella turcica
MedGen UID:
356654
Concept ID:
C1866959
Anatomical Abnormality
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Bifid ribs
MedGen UID:
1648338
Concept ID:
C4721788
Anatomical Abnormality
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Orbital cyst
MedGen UID:
56359
Concept ID:
C0155285
Finding
Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Broad face
MedGen UID:
349223
Concept ID:
C1859680
Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding
Plantar pits
MedGen UID:
338902
Concept ID:
C1852301
Finding
The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGorlin syndrome
Follow this link to review classifications for Gorlin syndrome in Orphanet.

Professional guidelines

PubMed

Peris K, Fargnoli MC, Kaufmann R, Arenberger P, Bastholt L, Seguin NB, Bataille V, Brochez L, Del Marmol V, Dummer R, Forsea AM, Gaudy-Marqueste C, Harwood CA, Hauschild A, Höller C, Kandolf L, Kellerners-Smeets NWJ, Lallas A, Leiter U, Malvehy J, Marinović B, Mijuskovic Z, Moreno-Ramirez D, Nagore E, Nathan P, Stratigos AJ, Stockfleth E, Tagliaferri L, Trakatelli M, Vieira R, Zalaudek I, Garbe C; EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E
Eur J Cancer 2023 Oct;192:113254. Epub 2023 Jul 28 doi: 10.1016/j.ejca.2023.113254. PMID: 37604067
Onodera S, Nakamura Y, Azuma T
Int J Mol Sci 2020 Oct 13;21(20) doi: 10.3390/ijms21207559. PMID: 33066274Free PMC Article
Folkins AK, Longacre TA
Histopathology 2013 Jan;62(1):2-30. doi: 10.1111/his.12028. PMID: 23240667

Curated

Lo Muzio L, Pastorino L, Levanat S, Musani V, Situm M, Scarra GB
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Feb 9 doi: 10.1038/ejhg.2011.9. PMID: 21304560Free PMC Article

Suggested Reading

Recent clinical studies

Etiology

Peris K, Fargnoli MC, Kaufmann R, Arenberger P, Bastholt L, Seguin NB, Bataille V, Brochez L, Del Marmol V, Dummer R, Forsea AM, Gaudy-Marqueste C, Harwood CA, Hauschild A, Höller C, Kandolf L, Kellerners-Smeets NWJ, Lallas A, Leiter U, Malvehy J, Marinović B, Mijuskovic Z, Moreno-Ramirez D, Nagore E, Nathan P, Stratigos AJ, Stockfleth E, Tagliaferri L, Trakatelli M, Vieira R, Zalaudek I, Garbe C; EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E
Eur J Cancer 2023 Oct;192:113254. Epub 2023 Jul 28 doi: 10.1016/j.ejca.2023.113254. PMID: 37604067
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Iyer RR, Strahle JM, Groves ML
Neurosurg Clin N Am 2022 Jan;33(1):81-89. Epub 2021 Oct 28 doi: 10.1016/j.nec.2021.09.013. PMID: 34801145
Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L
Clin Cancer Res 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. PMID: 28620006Free PMC Article
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article

Diagnosis

Peris K, Fargnoli MC, Kaufmann R, Arenberger P, Bastholt L, Seguin NB, Bataille V, Brochez L, Del Marmol V, Dummer R, Forsea AM, Gaudy-Marqueste C, Harwood CA, Hauschild A, Höller C, Kandolf L, Kellerners-Smeets NWJ, Lallas A, Leiter U, Malvehy J, Marinović B, Mijuskovic Z, Moreno-Ramirez D, Nagore E, Nathan P, Stratigos AJ, Stockfleth E, Tagliaferri L, Trakatelli M, Vieira R, Zalaudek I, Garbe C; EADO”A, EDF”B, ESTRO”C, UEMS”D and EADV”E
Eur J Cancer 2023 Oct;192:113254. Epub 2023 Jul 28 doi: 10.1016/j.ejca.2023.113254. PMID: 37604067
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Ganapathy A, Diaz EJ, Coleman JT, Mackey KA
Neurosurg Clin N Am 2022 Jan;33(1):91-104. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.007. PMID: 34801146
Palacios-Álvarez I, González-Sarmiento R, Fernández-López E
Actas Dermosifiliogr (Engl Ed) 2018 Apr;109(3):207-217. Epub 2018 Jan 17 doi: 10.1016/j.ad.2017.07.018. PMID: 29373110
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article

Therapy

Frampton JE, Basset-Séguin N
Drugs 2018 Jul;78(11):1145-1156. doi: 10.1007/s40265-018-0948-9. PMID: 30030732
Fargnoli MC, Peris K
Future Oncol 2015 Nov;11(22):2991-6. Epub 2015 Nov 9 doi: 10.2217/fon.15.208. PMID: 26550910
Samkari A, White J, Packer R
Expert Rev Neurother 2015;15(7):763-70. Epub 2015 May 31 doi: 10.1586/14737175.2015.1052796. PMID: 26027634
Blackburn EH
Cancer Prev Res (Phila) 2011 Jun;4(6):787-92. doi: 10.1158/1940-6207.CAPR-11-0195. PMID: 21636545
Liu H, Gu D, Xie J
Chin J Cancer 2011 Jan;30(1):13-26. doi: 10.5732/cjc.010.10540. PMID: 21192841Free PMC Article

Prognosis

Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Štellmachová Júlia, Vrtěl Petr, Vrtěl Radek, Janíková Mária, Kolaříková Kristýna, Procházka Martin, Vodička Radek
Ceska Gynekol 2022;87(3):211-216. doi: 10.48095/cccg2022211. PMID: 35896402
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Singh AK, Lopez-Araujo A, Katabathina VS
J Pediatr 2014 Jun;164(6):1501-1501.e1. Epub 2014 Mar 3 doi: 10.1016/j.jpeds.2014.01.048. PMID: 24602407
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

Clinical prediction guides

Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
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