Abouzeid, HanaBoisset, GaelleFavez, TatianaYoussef, MohamedMarzouk, ImanShakankiry, NihalBayoumi, NaderDescombes, PatrickAgosti, CelineMunier, Francis L.Schorderet, Daniel E.2011-12-162011-12-162011-12-16201110.1016/j.ajhg.2010.12.002https://infoscience.epfl.ch/handle/20.500.14299/74468WOS:000286501500009Waardenburg 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.Ophthalmo-Acromelic SyndromeRecessive AnophthalmiaHomeobox GeneMicrophthalmiaAbnormalitiesAnomaliesEyeMalformationsDystrophyFibulin-1text::journal::journal article::research article