Etiology
Bautista G
Neoreviews
2021 Apr;22(4):e250-e257.
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Aref-Eshghi E,
Kerkhof J,
Pedro VP;
Groupe DI France,
Barat-Houari M,
Ruiz-Pallares N,
Andrau JC,
Lacombe D,
Van-Gils J,
Fergelot P,
Dubourg C,
Cormier-Daire V,
Rondeau S,
Lecoquierre F,
Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
Faivre L,
Thauvin-Robinet C,
Laumonnier F,
Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
Pizzi S,
Tartaglia M,
Heide S,
Héron D,
Mignot C,
Keren B,
Whalen S,
Afenjar A,
Bienvenu T,
Campeau PM,
Rousseau J,
Levy MA,
Brick L,
Kozenko M,
Balci TB,
Siu VM,
Stuart A,
Kadour M,
Masters J,
Takano K,
Kleefstra T,
de Leeuw N,
Field M,
Shaw M,
Gecz J,
Ainsworth PJ,
Lin H,
Rodenhiser DI,
Friez MJ,
Tedder M,
Lee JA,
DuPont BR,
Stevenson RE,
Skinner SA,
Schwartz CE,
Genevieve D,
Sadikovic B
Am J Hum Genet
2020 Mar 5;106(3):356-370.
Epub 2020 Feb 27
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Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
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Cereda A,
Carey JC
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Wilson ME,
Eustis HS Jr,
Parks MM
Surv Ophthalmol
1989 Nov-Dec;34(3):153-72.
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PMID: 2694414
Diagnosis
Aref-Eshghi E,
Kerkhof J,
Pedro VP;
Groupe DI France,
Barat-Houari M,
Ruiz-Pallares N,
Andrau JC,
Lacombe D,
Van-Gils J,
Fergelot P,
Dubourg C,
Cormier-Daire V,
Rondeau S,
Lecoquierre F,
Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
Faivre L,
Thauvin-Robinet C,
Laumonnier F,
Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
Pizzi S,
Tartaglia M,
Heide S,
Héron D,
Mignot C,
Keren B,
Whalen S,
Afenjar A,
Bienvenu T,
Campeau PM,
Rousseau J,
Levy MA,
Brick L,
Kozenko M,
Balci TB,
Siu VM,
Stuart A,
Kadour M,
Masters J,
Takano K,
Kleefstra T,
de Leeuw N,
Field M,
Shaw M,
Gecz J,
Ainsworth PJ,
Lin H,
Rodenhiser DI,
Friez MJ,
Tedder M,
Lee JA,
DuPont BR,
Stevenson RE,
Skinner SA,
Schwartz CE,
Genevieve D,
Sadikovic B
Am J Hum Genet
2020 Mar 5;106(3):356-370.
Epub 2020 Feb 27
doi: 10.1016/j.ajhg.2020.01.019.
PMID: 32109418Free PMC Article
Buchanan EP,
Xue AS,
Hollier LH Jr
Plast Reconstr Surg
2014 Jul;134(1):128e-153e.
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Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
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PMID: 23088440Free PMC Article
González SB,
Busquets JC,
Figueiras RG,
Martín CV,
Pose CS,
de Alegría AM,
Mourenza JA
AJR Am J Roentgenol
2009 Nov;193(5):1425-33.
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Hunt CE,
Silvestri JM
Curr Opin Pulm Med
1997 Nov;3(6):445-8.
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Therapy
Rosa J
Vnitr Lek
2023 Summer;69(4):254-260.
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PMID: 37468295
Lees CC,
Romero R,
Stampalija T,
Dall'Asta A,
DeVore GA,
Prefumo F,
Frusca T,
Visser GHA,
Hobbins JC,
Baschat AA,
Bilardo CM,
Galan HL,
Campbell S,
Maulik D,
Figueras F,
Lee W,
Unterscheider J,
Valensise H,
Da Silva Costa F,
Salomon LJ,
Poon LC,
Ferrazzi E,
Mari G,
Rizzo G,
Kingdom JC,
Kiserud T,
Hecher K
Am J Obstet Gynecol
2022 Mar;226(3):366-378.
Epub 2022 Jan 10
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Martínez-Espinosa RM,
Molina Vila MD,
Reig García-Galbis M
Int J Environ Res Public Health
2020 Jun 16;17(12)
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Klein C
Hematology Am Soc Hematol Educ Program
2009:344-50.
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Nelson LB,
Wagner RS,
Simon JW,
Harley RD
Surv Ophthalmol
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PMID: 3303394
Prognosis
Jezela-Stanek A
J Mother Child
2020 Jul 29;24(1):47-52.
doi: 10.34763/jmotherandchild.2020241.1931.000004.
PMID: 33074183Free PMC Article
Karol LA
J Pediatr Orthop
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43.
doi: 10.1097/BPO.0000000000001351.
PMID: 31169646
Ahn KH,
Park YJ,
Hong SC,
Lee EH,
Lee JS,
Oh MJ,
Kim HJ
J Obstet Gynaecol
2016 Jul;36(5):563-6.
Epub 2016 Mar 10
doi: 10.3109/01443615.2015.1127905.
PMID: 26965725
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Wilson ME,
Eustis HS Jr,
Parks MM
Surv Ophthalmol
1989 Nov-Dec;34(3):153-72.
doi: 10.1016/0039-6257(89)90100-8.
PMID: 2694414
Clinical prediction guides
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat
2022 Jun;31(2):49-64.
PMID: 35751533
Rosenfeld E,
Ganguly A,
De Leon DD
Am J Med Genet C Semin Med Genet
2019 Dec;181(4):682-692.
Epub 2019 Aug 14
doi: 10.1002/ajmg.c.31737.
PMID: 31414570Free PMC Article
Jacquinet A,
Millar D,
Lehman A
Am J Med Genet A
2016 Aug;170(8):2141-72.
Epub 2016 Jun 8
doi: 10.1002/ajmg.a.37775.
PMID: 27273803
Battaglia A,
Carey JC,
Wright TJ
Adv Pediatr
2001;48:75-113.
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Smith AT,
Sack GH Jr,
Taylor GJ
J Pediatr
1979 Oct;95(4):538-43.
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PMID: 480027