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Article

Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.

Endocrinology - 1 Nov 2004

Malloy Peter J, Xu Rong, Peng Lihong, Peleg Sara, Al-Ashwal Abdullah, Feldman David

Abstract excerpt

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). We studied a young Saudi Arabian girl who exhibited the typical clinical features of HVDRR, but without alopecia. Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T). From crystallographic studies...

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Identifiers

PMID: 15308610
DOI: 10.1210/en.2004-0080

Genes

VDR

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

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