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Article

Hereditary vitamin D-resistant rickets presenting as alopecia.

Pediatric dermatology - 1 Jan 2000

Casey Genevieve, McPherson Tess, Kini Usha, Ryan Fiona, Taibjee Saleem M, Moss Celia, Burge Susan

Abstract excerpt

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel...

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Source

Identifiers

PMID: 24917549
DOI: 10.1111/pde.12327

Genes

VDR

Provenance

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.

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