Abstract:
: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 SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Abouzeid H,Boisset G,Favez T,Youssef M,Marzouk I,Shakankiry N,Bayoumi N,Descombes P,Agosti C,Munier FL,Schorderet DFdoi
10.1016/j.ajhg.2010.12.002subject
Has Abstractpub_date
2011-01-07 00:00:00pages
92-8issue
1eissn
0002-9297issn
1537-6605pii
S0002-9297(10)00638-5journal_volume
88pub_type
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