Article
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2020
Zheng Bixia, Wang Chunli, Chen Qiuxia, Che Ruochen, Sha Yugen, Zhao Fei, Ding Guixia, Zhou Wei, Jia Zhanjun, Huang Songming, Chen Ying, Zhang Aihua
Abstract excerpt
X-linked hypophosphatemia (XLHR) is caused by loss-of-function mutations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene. Considerable controversy exists regarding genotype-phenotype correlations in XLHR. The present study describes the clinical features and molecular genetic bases of 53 pediatric patients with XLHR. Overall, 47 different mutations were identified, of which 27 were not...
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