Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

doi:10.1210/jcem.78.2.8106618

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Article

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

The Journal of clinical endocrinology and metabolism - 1 Feb 1994

Malloy P J, Weisman Y, Feldman D

Abstract excerpt

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a genetic disease that results from mutations in the gene encoding the vitamin D receptor (VDR). In this study of two siblings showing classical features of HVDRR, cultured dermal fibroblasts were used to characterize their VDR and assess responsiveness to 1,25-dihydroxyvitamin D3 treatment. The VDR displayed normal affinity and binding...

Topics

Amino Acid Sequence
Base Sequence
Calcitriol
Cells, Cultured
Child, Preschool
DNA
Exons
Family Health
Female
Fibroblasts
Humans
Hypophosphatemia, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Protein Binding

Source

Open in PubMed

Identifiers

PMID: 8106618
DOI: 10.1210/jcem.78.2.8106618

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8106618-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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