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Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans

Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the 4th–5th wk of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is th...

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Detalhes bibliográficos
Main Authors: Valleix, Sophie, Niel, Florence, Nedelec, Brigitte, Algros, Marie-Paule, Schwartz, Claire, Delbosc, Bernard, Delpech, Marc, Kantelip, Bernadette
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559477/
https://ncbi.nlm.nih.gov/pubmed/16826526
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