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Article

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling.

Hormone research - 1 Jan 2006

Katavetin Paravee, Katavetin Pisut, Wacharasindhu Suttipong, Shotelersuk Vorasuk

Abstract excerpt

Mutations in vitamin D receptor (VDR) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product of a consanguineous couple. Mutation analysis showed that she was homozygous for a novel splice site mutation of the VDR gene, 462 + 1 G --> C, resulting in incorporation of the whole 254 bp of the intron 4...

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Source

Identifiers

PMID: 16946620
DOI: 10.1159/000095546

Genes

VDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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