Article
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
European journal of human genetics : EJHG - 1 Apr 2016
Deml Brett, Reis Linda M, Lemyre Emmanuelle, Clark Robin D, Kariminejad Ariana, Semina Elena V
Abstract excerpt
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by...
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