Huixiao Wu, Hui Ying, Wanyi Zhao, Yan Sun, Yanzhou Wang, Xinyu Chen, Guimei Li, Yangyang Yao, Shuo Xu, Tianyou Li, Li Fang, Xiaoqing Sun, Ning Wang, Jin Xu, Qingbo Guan, Weibo Xia, Li Wang, Ling Gao, Jiajun Zhao, Chao Xu
BACKGROUND: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype relationship of XLHR and the pathogenic role of PHEX have not been fully understood. METHODS: In this study, we summarized clinical features in a new cohort of 49 HR patients and detected 16 novel PHEX and 5 novel non-PHEX variants...
March 5, 2024: Journal of Clinical Endocrinology and Metabolism