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Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Gonadotropin-releasing hormone (GnRH) deficiency in the human presents either as normosmic idiopathic hypogonadotropic hypogonadism (nIHH) or with anosmia [Kallmann syndrome (KS)]. To date, several loci have been identified to cause these disorders, but only 30% of cases exhibit mutations in known g...

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Bibliographische Detailangaben
Hauptverfasser: Pitteloud, Nelly, Zhang, Chengkang, Pignatelli, Duarte, Li, Jia-Da, Raivio, Taneli, Cole, Lindsay W., Plummer, Lacey, Jacobson-Dickman, Elka E., Mellon, Pamela L., Zhou, Qun-Yong, Crowley, William F.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2007
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077276/
https://ncbi.nlm.nih.gov/pubmed/17959774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0707173104
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