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

Détails

ID Serval
serval:BIB_3383BA446011
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome.
Périodique
American Journal of Human Genetics
Auteur(s)
Abouzeid H., Boisset G., Favez T., Youssef M., Marzouk I., Shakankiry N., Bayoumi N., Descombes P., Agosti C., Munier F.L., Schorderet D.F.
ISSN
1537-6605[electronic], 0002-9297[linking]
Statut éditorial
Publié
Date de publication
2011
Peer-reviewed
Oui
Volume
88
Numéro
1
Pages
92-98
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
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.
Pubmed
Web of science
Open Access
Oui
Création de la notice
23/01/2011 18:34
Dernière modification de la notice
20/08/2019 13:19
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