Article
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
American journal of medical genetics. Part A - 1 Jul 2013
Kondo Yukiko, Koshimizu Eriko, Megarbane Andre, Hamanoue Haruka, Okada Ippei, Nishiyama Kiyomi, Kodera Hirofumi, Miyatake Satoko, Tsurusaki Yoshinori, Nakashima Mitsuko, Doi Hiroshi, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.