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Article

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

PloS one - 1 Jan 2015

Tamura Mayuko, Isojima Tsuyoshi, Kawashima Minae, Yoshida Hideki, Yamamoto Keiko, Kitaoka Taichi, Namba Noriyuki, Oka Akira, Ozono Keiichi, Tokunaga Katsushi, Kitanaka Sachiko

Abstract excerpt

CONTEXT: Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR) gene. No patients have been reported with uniparental disomy (UPD). OBJECTIVE: Using genome-wide single nucleotide polymorphism (SNP) array to confirm whether HVDRR was caused by UPD of chromosome 12. MATERIALS AND METHODS: A 2-year-old girl with...

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Identifiers

PMID: 26153892
DOI: 10.1371/journal.pone.0131157
PMCID: PMC4496068

Genes

VDR

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.PMID 26153892Read ↗

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