Article
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.
PloS one - 1 Jan 2013
Brioude Frédéric, Bouligand Jérôme, Francou Bruno, Fagart Jérôme, Roussel Ronan, Viengchareun Say, Combettes Laurent, Brailly-Tabard Sylvie, Lombès Marc, Young Jacques, Guiochon-Mantel Anne
Abstract excerpt
CONTEXT: KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). OBJECTIVE: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation. RESULTS: An original mutant, p.Tyr313His, was found in the homozygous state in 3 affected kindred (2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.