Article
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
American journal of human genetics - 7 Feb 2013
Fares-Taie Lucas, Gerber Sylvie, Chassaing Nicolas, Clayton-Smith Jill, Hanein Sylvain, Silva Eduardo, Serey Margaux, Serre Valérie, Gérard Xavier, Baumann Clarisse, Plessis Ghislaine, Demeer Bénédicte, Brétillon Lionel, Bole Christine, Nitschke Patrick, Munnich Arnold, Lyonnet Stanislas, Calvas Patrick, Kaplan Josseline, Ragge Nicola, Rozet Jean-Michel
Abstract excerpt
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified...
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