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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2011
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3198730/
https://ncbi.nlm.nih.gov/pubmed/22031817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0025614
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