R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH de...

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Autores principales: Maione, Luigi, Albarel, Frederique, Bouchard, Philippe, Gallant, Megan, Flanagan, Colleen A., Bobe, Regis, Cohen-Tannoudji, Joelle, Pivonello, Rosario, Colao, Annamaria, Brue, Thierry, Millar, Robert P., Lombes, Marc, Young, Jacques, Guiochon-Mantel, Anne, Bouligand, Jerome
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/PMC3723855/
https://ncbi.nlm.nih.gov/pubmed/23936060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0069616
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