Xiaolin Ni, Yiyi Gong, Yan Jiang, Xiang Li, Qianqian Pang, Wei Liu, Yue Chi, Ruizhi Jiajue, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
CONTEXT: Hereditary hypophosphatemic rickets (HR) consists of a group of inherited hypophosphatemia due to mutations of different genes, which needs genetic analysis to make differential diagnosis. Among them, autosomal recessive hypophosphatemic rickets type 1 (ARHR1) caused by homozygous mutation of dentin matrix protein 1 (DMP1), is extremely rare only with 30 reported patients. To date, there has been no case with compound heterozygous DMP1 mutations. OBJECTIVES, DESIGN, SETTING AND PARTICIPANTS: In this study, we reported the clinical features of a Chinese patient with HR...
November 5, 2022: Journal of Clinical Endocrinology and Metabolism