Article
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
Gene - 30 Jan 2018
Chen Jing, Yang Jiangfei, Zhao Suzhou, Ying Hui, Li Guimei, Xu Chao
Abstract excerpt
BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this...
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