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Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

CONTEXT: 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 the pathophysiolog...

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Detalles Bibliográficos
Autores principales:	Francou, Bruno, Bouligand, Jérôme, Voican, Adela, Amazit, Larbi, Trabado, Séverine, Fagart, Jérôme, Meduri, Geri, Brailly-Tabard, Sylvie, Chanson, Philippe, Lecomte, Pierre, Guiochon-Mantel, Anne, Young, Jacques
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198730/ https://www.ncbi.nlm.nih.gov/pubmed/22031817 http://dx.doi.org/10.1371/journal.pone.0025614

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