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Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

PURPOSE: Aniridia and congenital cataract represent rare but severe developmental ocular conditions. We examined 33 probands from France for mutations in several transcription factors associated with these phenotypes, the forkhead box E3 (FOXE3), paired box gene 6 (PAX6), paired-like homeodomain tra...

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主要な著者: Brémond-Gignac, Dominique, Bitoun, Pierre, Reis, Linda M., Copin, Henri, Murray, Jeffrey C., Semina, Elena V.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2010
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オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927439/
https://ncbi.nlm.nih.gov/pubmed/20806047
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