Article
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Human mutation - 1 Aug 2014
Abouzeid Hana, Favez Tatiana, Schmid Angélique, Agosti Céline, Youssef Mohammed, Marzouk Iman, El Shakankiry Nihal, Bayoumi Nader, Munier Francis L, Schorderet Daniel F
Abstract excerpt
Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations...
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