Article
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
Molecular vision - 22 Aug 2010
Brémond-Gignac Dominique, Bitoun Pierre, Reis Linda M, Copin Henri, Murray Jeffrey C, Semina Elena V
Abstract excerpt
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 transcription factor 2 (PITX2), and paired-like homeodomain transcription factor 3 (PITX3) genes. METHODS: Out of 33...
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