Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.

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 KISS1...

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Detalles Bibliográficos
Autores principales: Frédéric Brioude, Jérôme Bouligand, Bruno Francou, Jérôme Fagart, Ronan Roussel, Say Viengchareun, Laurent Combettes, Sylvie Brailly-Tabard, Marc Lombès, Jacques Young, Anne Guiochon-Mantel
Formato: Artículo
Lenguaje:English
Publicado: Public Library of Science (PLoS) 2013-01-01
Colección:PLoS ONE
Acceso en línea:http://europepmc.org/articles/PMC3548821?pdf=render

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