Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

• Main Authors: Yixuan Cao (Author), Yi You (Author), Qiong Wang (Author), Xiuzhi Ren (Author), Shan Li (Author), Lulu Li (Author), Weibo Xia (Author), Xin Guan (Author), Tao Yang (Author), Shiro Ikegawa (Author), Zheng Wang (Author), Xiuli Zhao (Author)
• Format: Book
• Published: BMC, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most cases of HR. The aim of this study wa...