Article
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2018
Xu Cheng, Cassatella Daniele, van der Sloot Almer M, Quinton Richard, Hauschild Michael, De Geyter Christian, Flück Christa, Feller Katrin, Bartholdi Deborah, Nemeth Attila, Halperin Irene, Pekic Djurdjevic Sandra, Maeder Philippe, Papadakis Georgios, Dwyer Andrew A, Marino Laura, Favre Lucie, Pignatelli Duarte, Niederländer Nicolas J, Acierno James, Pitteloud Nelly
Abstract excerpt
PURPOSE: Congenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.