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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Autores principales: Brioude, Frédéric, Bouligand, Jérôme, Francou, Bruno, Fagart, Jérôme, Roussel, Ronan, Viengchareun, Say, Combettes, Laurent, Brailly-Tabard, Sylvie, Lombès, Marc, Young, Jacques, Guiochon-Mantel, Anne
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548821/
https://ncbi.nlm.nih.gov/pubmed/23349759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053896
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