Ontology highlight
ABSTRACT:
SUBMITTER: Yahyavi M
PROVIDER: S-EPMC3723310 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Yahyavi Mani M Abouzeid Hana H Gawdat Ghada G de Preux Anne-Sophie AS Xiao Tong T Bardakjian Tanya T Schneider Adele A Choi Alex A Jorgenson Eric E Baier Herwig H El Sada Mohamad M Schorderet Daniel F DF Slavotinek Anne M AM
Human molecular genetics 20130415 16
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia ...[more]