FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region
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DOI: 10.1002/humu.23178
Abstract: Heterozygous loss‐of‐function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split‐hand/foot malformation (HH‐SHFM). We examined FGFR1 in four Japanese patients with HH‐SHFM (cases 1–4) and the mother of… read more here.
Keywords: foot malformation; split hand; fgfr1; hypogonadotropic hypogonadism ... See more keywords