Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

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 cons...

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Bibliographic Details
Main Authors: Abouzeid, Hana, Boisset, Gaëlle, Favez, Tatiana, Youssef, Mohamed, Marzouk, Iman, Shakankiry, Nihal, Bayoumi, Nader, Descombes, Patrick, Agosti, Céline, Munier, Francis L., Schorderet, Daniel F.
Format: Artigo
Language:Inglês
Published: Elsevier 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014360/
https://ncbi.nlm.nih.gov/pubmed/21194680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.002
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