L Y Wei, C X Gong, B Y Cao, X Q Li, X J Liang, W J Li, D Wu, M Liu, C Su, J J Chen
Objective: To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH). Methods: In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children's Hospital from January 2010 to January 2020. The clinical characteristics, PHEX gene variants, as well as clinical outcome of the patients were summarized. To analyze the correlation between genotype and phenotype, the patients were divided into different subgroups according to the location of the variants, including N-terminal-located vs ...
August 2, 2021: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics