Article
Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
Biological chemistry - 1 Jan 2015
Yuan Lamei, Wu Song, Xu Hongbo, Xiao Jingjing, Yang Zhijian, Xia Hong, Liu An, Hu Pengzhi, Lu Anjie, Chen Yulan, Xu Fengping, Deng Hao
Abstract excerpt
Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this study was to identify the genetic defect responsible for familial HR in a four-generation Chinese Han pedigree by exome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.