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Article

Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.

PloS one - 1 Jan 2015

Lim Lee-Moay, Zhao Xuan, Chao Mei-Chyn, Chang Jer-Ming, Chang Wei-Chiao, Kao Hung-Ying, Hwang Daw-Yang, Chen Hung-Chun

Abstract excerpt

Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HVDRR including severe rickets, hypocalcemia and hypophosphatemia without alopecia. Genetic analysis revealed novel...

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Identifiers

PMID: 26422470
DOI: 10.1371/journal.pone.0138152
PMCID: PMC4589239

Genes

VDR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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