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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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Sonraí Bibleagrafaíochta
Main Authors: Valleix, Sophie, Niel, Florence, Nedelec, Brigitte, Algros, Marie-Paule, Schwartz, Claire, Delbosc, Bernard, Delpech, Marc, Kantelip, Bernadette
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2006
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559477/
https://ncbi.nlm.nih.gov/pubmed/16826526
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