Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

2016
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 2
2017 2
2018 1
2021 1
2022 2
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin-Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubi …
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagno …
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
Aggarwal A, Rodriguez-Buritica DF, Northrup H. Aggarwal A, et al. Eur J Med Genet. 2017 Jun;60(6):285-288. doi: 10.1016/j.ejmg.2017.03.006. Epub 2017 Mar 27. Eur J Med Genet. 2017. PMID: 28359930 Review.
Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. ...Genotype and phenotype of the patient is compared with the earlier reported patients in the litera
Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disabil
Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
Spodzieja K, Olczak-Kowalczyk D. Spodzieja K, et al. Int J Environ Res Public Health. 2022 Mar 13;19(6):3386. doi: 10.3390/ijerph19063386. Int J Environ Res Public Health. 2022. PMID: 35329073 Free PMC article. Review.
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, mucocutaneous dyskeratosis, Coffin-Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphat …
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, muco …
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Stellacci E, Onesimo R, Bruselles A, Pizzi S, Battaglia D, Leoni C, Zampino G, Tartaglia M. Stellacci E, et al. Am J Med Genet A. 2016 Sep;170(9):2389-93. doi: 10.1002/ajmg.a.37681. Epub 2016 Jun 20. Am J Med Genet A. 2016. PMID: 27320412 Review.
Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. ...
Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, inte
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. ...
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associat
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y. Sun Y, et al. Am J Med Genet A. 2017 Feb;173(2):510-514. doi: 10.1002/ajmg.a.38025. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759909 Review.
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. ...
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short statur …
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Feng J, et al. Orphanet J Rare Dis. 2021 Sep 20;16(1):392. doi: 10.1186/s13023-021-02018-6. Orphanet J Rare Dis. 2021. PMID: 34544473 Free PMC article. Review.
Notably, one case harbored both ACAD8 compound heterozygous variants and a KMT2A de novo variant (c.2739del, p.E914Rfs*35), with IBDD and Wiedemann-Steiner syndrome together, had exact severe global developmental delay. All patients were regularly monitored o …
Notably, one case harbored both ACAD8 compound heterozygous variants and a KMT2A de novo variant (c.2739del, p.E914Rfs*35), with IBDD and …
Atlantoaxial facet fixation using cervical facet cage: technical case report and review of the literature.
Anand SK, Shanahan RM, Alattar AA, Phillips HW, Okonkwo DO, McDowell MM. Anand SK, et al. Childs Nerv Syst. 2024 Jul;40(7):2193-2197. doi: 10.1007/s00381-024-06339-2. Epub 2024 Mar 14. Childs Nerv Syst. 2024. PMID: 38483605 Review.
In addition, we review the literature on atlantoaxial facet fixation. We present a 12-year-old boy with Wiedemann-Steiner syndrome who presented with multiple episodes of sudden neck jerking, described as in response to a sensation of being shocked, and guard …
In addition, we review the literature on atlantoaxial facet fixation. We present a 12-year-old boy with Wiedemann-Steiner s