Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Context: Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency. Objectives: We aimed to screen a large cohort of patients with Kallmann syndrome (KS) and normosmi...

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Hlavní autoři: Cole, Lindsay W., Sidis, Yisrael, Zhang, ChengKang, Quinton, Richard, Plummer, Lacey, Pignatelli, Duarte, Hughes, Virginia A., Dwyer, Andrew A., Raivio, Taneli, Hayes, Frances J., Seminara, Stephanie B., Huot, Celine, Alos, Nathalie, Speiser, Phyllis, Takeshita, Akira, VanVliet, Guy, Pearce, Simon, Crowley, William F., Zhou, Qun-Yong, Pitteloud, Nelly
Médium: Artigo
Jazyk:Inglês
Vydáno: The Endocrine Society 2008
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2567850/
https://ncbi.nlm.nih.gov/pubmed/18559922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-2654
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