Article
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Proceedings of the National Academy of Sciences of the United States of America - 30 Oct 2007
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
Abstract excerpt
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 genes. Recently, murine studies have demonstrated a critical role of the prokineticin pathway in olfactory bulb...
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