Article
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
American journal of human genetics - 7 Jan 2011
Abouzeid Hana, Boisset Gaëlle, Favez Tatiana, Youssef Mohamed, Marzouk Iman, Shakankiry Nihal, Bayoumi Nader, Descombes Patrick, Agosti Céline, Munier Francis L, Schorderet Daniel F
Abstract excerpt
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in...
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