Article
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
Genetics and molecular research : GMR - 11 Nov 2014
Wang X L, Wang D D, Gu J Q, Zhang N, Shan Z Y
Abstract excerpt
Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skeletal malformations....
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