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To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH).Cross-sectional study.Multicentric.Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH).None.Patients were screened for mutations in FGFR1. The functional consequences of mutations...
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