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

Xiaolin NiYiyi GongYan JiangXiang LiQianqian PangWei LiuYue ChiRuizhi JiajueOu WangMei LiXiaoping XingWeibo Xia
Published in: The Journal of clinical endocrinology and metabolism (2022)
We firstly reported 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.
Keyphrases
  • early onset
  • case report
  • intellectual disability
  • muscular dystrophy
  • autism spectrum disorder