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

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

The Journal of clinical endocrinology and metabolism（2023）

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摘要

We report for the first time compound heterozygous DMP1 mutations consisting of a large deletion and a novel start codon mutation (c.1A > T, p.Met1Leu) in a Chinese patient with ARHR1.

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关键词

DMP1 ,ARHR1,WES,compound heterozygous mutations,deletion,start codon mutation

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