A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

PURPOSE: The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with vertebral fusio...

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Detalhes bibliográficos
Publicado no:Am J Ophthalmol Case Rep
Main Authors: Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-yan, Slavotinek, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Case report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5722175/
https://ncbi.nlm.nih.gov/pubmed/29260090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2017.06.006
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