Article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
JAMA ophthalmology - 1 Apr 2017
Taylor Rachel L, Arno Gavin, Poulter James A, Khan Kamron N, Morarji Jiten, Hull Sarah, Pontikos Nikolas, Rueda Martin Antonio, Smith Katherine R, Ali Manir, Toomes Carmel, McKibbin Martin, Clayton-Smith Jill, Grunewald Stephanie, Michaelides Michel, Moore Anthony T, Hardcastle Alison J, Inglehearn Chris F, Webster Andrew R, Black Graeme C
Abstract excerpt
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a consistent primary presenting feature. Objective: To investigate a series of patients with the same mutation in the SRD5A3 gene and thereby characterize its...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.