Etiology
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Fergelot P,
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Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
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Thauvin-Robinet C,
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Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
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Lin H,
Rodenhiser DI,
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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
Karol LA
J Pediatr Orthop
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43.
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Cereda A,
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Orphanet J Rare Dis
2012 Oct 23;7:81.
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Puri RD,
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Therapy
Rosa J
Vnitr Lek
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Lees CC,
Romero R,
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Dall'Asta A,
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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,
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2020 Jun 16;17(12)
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Semin Respir Crit Care Med
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Klein C
Hematology Am Soc Hematol Educ Program
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Prognosis
Karol LA
J Pediatr Orthop
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43.
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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.
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Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
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Hidestrand P,
Vasconez H,
Cottrill C
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Wilson ME,
Eustis HS Jr,
Parks MM
Surv Ophthalmol
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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
Vajravelu ME,
De León DD
Curr Opin Pediatr
2018 Aug;30(4):568-575.
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PMID: 29750770Free PMC Article
Jacquinet A,
Millar D,
Lehman A
Am J Med Genet A
2016 Aug;170(8):2141-72.
Epub 2016 Jun 8
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PMID: 27273803
Smith AT,
Sack GH Jr,
Taylor GJ
J Pediatr
1979 Oct;95(4):538-43.
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