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Article

Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.

Scientific reports - 11 Jul 2017

Tamura Mayuko, Ishizawa Michiyasu, Isojima Tsuyoshi, Özen Samim, Oka Akira, Makishima Makoto, Kitanaka Sachiko

Abstract excerpt

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia. The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected in a patient with HVDRR, comparing to other mutations with or without alopecia. The patient was a 2-year-old girl with...

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Identifiers

PMID: 28698609
DOI: 10.1038/s41598-017-05081-x
PMCID: PMC5505967

Genes

VDR

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