Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing

Affiliations

• ¹ Department of Endocrinology, Caoxian People's Hospital of Heze, 274400, China.
• ² State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, China.
• ³ State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830017, China. Electronic address: jiangshengdr_88@163.com.