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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Detalles Bibliográficos
Autores principales: Brémond-Gignac, Dominique, Bitoun, Pierre, Reis, Linda M., Copin, Henri, Murray, Jeffrey C., Semina, Elena V.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927439/
https://www.ncbi.nlm.nih.gov/pubmed/20806047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927439/
https://www.ncbi.nlm.nih.gov/pubmed/20806047

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