Article
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism - 1 Apr 2001
Beranova M, Oliveira L M, Bédécarrats G Y, Schipani E, Vallejo M, Ammini A C, Quintos J B, Hall J E, Martin K A, Hayes F J, Pitteloud N, Kaiser U B, Crowley W F, Seminara S B
Abstract excerpt
Mutations in the GnRH receptor (GNRHR) have been described as a cause of reproductive failure in a subset of patients with idiopathic hypogonadotropic hypogonadism (IHH). Given the apparent rarity of these mutations, we set out to determine the frequency and distribution of GNRHR mutations in a h...
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