Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KA...

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書誌詳細
主要な著者: Kim, Hyung-Goo, Kurth, Ingo, Lan, Fei, Meliciani, Irene, Wenzel, Wolfgang, Eom, Soo Hyun, Kang, Gil Bu, Rosenberger, Georg, Tekin, Mustafa, Ozata, Metin, Bick, David P., Sherins, Richard J., Walker, Steven L., Shi, Yang, Gusella, James F., Layman, Lawrence C.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2008
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2561938/
https://ncbi.nlm.nih.gov/pubmed/18834967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.005
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