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Article

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014

Mazen Inas, Ismail Samira, Amr Khalda, El Gammal Mona, Abdel-Hamid Mohamed

Abstract excerpt

OBJECTIVE: To study the vitamin D receptor (VDR) gene in five Egyptian patients with severe rickets and the clinical features of hereditary vitamin D-resistant rickets, including hypocalcemia, hypophosphatemia, total alopecia, and elevated serum levels of 1,25-dihydroxyvitamin D. STUDY DESIGN: We amplified and sequenced DNA samples from blood from the patients, their parents, and available family members....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24859502
DOI: 10.1515/jpem-2013-0443

Genes

VDR

Variants

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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