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Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Macedo Luciana Cosentino de, Soardi Fernanda Caroline, Ananias Nayla, Belangero Vera Maria Santoro, Rigatto Sumara Zuazani Pinto, De-Mello Maricilda Palandi, D'Souza-Li Lília

Abstract excerpt

Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced. We identified three mutations: two patients had the same...

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Source

Identifiers

PMID: 19169476
DOI: 10.1590/s0004-27302008000800007

Genes

VDR

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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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Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.PMID 19169476Read ↗

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