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Article

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2009

Zhou Yulin, Wang Jining, Malloy Peter J, Dolezel Zdenek, Feldman David

Abstract excerpt

Hereditary vitamin D-resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the vitamin D receptor (VDR). In this study, we examined the VDR in a young girl with clinical features of HVDRR including rickets, hypophosphatemia, and elevated serum 1,25(OH)(2)D. The girl also had total alopecia. Two mutations were found in the VDR gene: a nonsense mutation (R30X) in the DNA-binding...

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Identifiers

PMID: 19049339
DOI: 10.1359/jbmr.081216
PMCID: PMC2659515

Genes

VDR
SRC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.PMID 19049339Read ↗

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