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Article

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.

The Journal of clinical endocrinology and metabolism - 10 Mar 2023

Ni Xiaolin, Gong Yiyi, Jiang Yan, Li Xiang, Pang Qianqian, Liu Wei, Chi Yue, Jiajue Ruizhi, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo

Abstract excerpt

CONTEXT: Hereditary hypophosphatemic rickets (HR) consists of a group of inherited hypophosphatemia due to mutations of different genes, which need genetic analysis to make a differential diagnosis. Among them, autosomal recessive hypophosphatemic rickets type 1 (ARHR1), caused by a homozygous mutation of dentin matrix protein 1 (DMP1), is extremely rare, with only 30 reported patients. To date, there has been no...

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PMID: 36334264
DOI: 10.1210/clinem/dgac640

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