Article
FOXE3 plays a significant role in autosomal recessive microphthalmia.
American journal of medical genetics. Part A - 1 Mar 2010
Reis Linda M, Tyler Rebecca C, Schneider Adele, Bardakjian Tanya, Stoler Joan M, Melancon Serge B, Semina Elena V
Abstract excerpt
FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3-deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular...
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