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Article

Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.

Clinical endocrinology - 1 Dec 1993

Hewison M, Rut A R, Kristjansson K, Walker R E, Dillon M J, Hughes M R, O'Riordan J L

Abstract excerpt

OBJECTIVE: Hereditary vitamin D resistant rickets (HVDRR) is characterized by severe rickets and is often accompanied by alopecia. Mutations in the gene encoding the vitamin D receptor have been found in this condition. In a patient with the characteristic phenotype we have investigated the functional defect and sequenced the gene to seek a mutation. DESIGN: Patient and control cell lines prepared from skin...

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Source

Identifiers

PMID: 8287584
DOI: 10.1111/j.1365-2265.1993.tb02424.x

Genes

VDR
CAT

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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.

Related research

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Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.PMID 8287584Read ↗

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A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D3Semantic proximity Read ↗

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

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