R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.

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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Bibliographic Details
Main Authors: Luigi Maione, Frederique Albarel, Philippe Bouchard, Megan Gallant, Colleen A Flanagan, Regis Bobe, Joelle Cohen-Tannoudji, Rosario Pivonello, Annamaria Colao, Thierry Brue, Robert P Millar, Marc Lombes, Jacques Young, Anne Guiochon-Mantel, Jerome Bouligand
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23936060/pdf/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23936060/pdf/?tool=EBI

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