Article
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
PLoS genetics - 20 Oct 2006
Dodé Catherine, Teixeira Luis, Levilliers Jacqueline, Fouveaut Corinne, Bouchard Philippe, Kottler Marie-Laure, Lespinasse James, Lienhardt-Roussie Anne, Mathieu Michèle, Moerman Alexandre, Morgan Graeme, Murat Arnaud, Toublanc Jean-Edmont, Wolczynski Slawomir, Delpech Marc, Petit Christine, Young Jacques, Hardelin Jean-Pierre
Abstract excerpt
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome cases. In a cohort of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.