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The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

Klinefelter syndrome (47, XXY) is the most frequent genetic cause of male infertility and individuals share the endocrine hallmark of hypergonadotropic hypogonadism. Single-nucleotide polymorphisms located within the FSHB/FSHR gene were recently shown to impact serum follicle-stimulating hormone (FS...

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Publicat a:Eur J Hum Genet
Autors principals: Busch, Alexander S, Tüttelmann, Frank, Zitzmann, Michael, Kliesch, Sabine, Gromoll, Jörg
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402621/
https://ncbi.nlm.nih.gov/pubmed/25052309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.142
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