Article
Human genetics of GPR54.
Reviews in endocrine & metabolic disorders - 1 Mar 2007
Cerrato Felecia, Seminara Stephanie B
Abstract excerpt
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition characterized by absence of sexual maturation in the setting of low sex steroids and low/normal gonadotropins. Despite its rarity, considerable genetic heterogeneity and phenotypic variability exists in this disorder. Loss of function mutations in a G protein coupled receptor, GPR54, have been shown to cause IHH. Although mutations in GPR54 are not a...
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