Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia
Keywords: HCH; Hypochondroplasia; SDs; skeletal dysplasias; ACH; achondroplasia; FGFR3; fibroblast growth factor receptor 3; TES; targeted exome sequencing; Hypochondroplasia (HCH); Fibroblast growth factor receptor 3 (FGFR3); Short stature; Targeted exome sequenci