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Article

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2011

Malloy Peter J, Zhou Yulin, Wang Jining, Hiort Olaf, Feldman David

Abstract excerpt

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). Patients exhibit severe rickets and hypocalcemia. Heterozygous parents and siblings appear normal and exhibit no symptoms of the disease. We analyzed the VDR gene of a young girl who exhibited the clinical features of HVDRR without alopecia. The patient had clinical and...

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Identifiers

PMID: 21812032
DOI: 10.1002/jbmr.484

Genes

VDR

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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Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.PMID 21812032Read ↗

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