Article
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Clinical genetics - 1 Dec 2010
Alazami A M, Schneider S A, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati M M, Bhatia K P, Degos B, Goh E, Alkuraya F S
Abstract excerpt
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.