Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

<h4>Context</h4>TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher...

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Autores principales: Bruno Francou, Jérôme Bouligand, Adela Voican, Larbi Amazit, Séverine Trabado, Jérôme Fagart, Geri Meduri, Sylvie Brailly-Tabard, Philippe Chanson, Pierre Lecomte, Anne Guiochon-Mantel, Jacques Young
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2011
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/0226114bf1e34aec99ac309f4a828c5f
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