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Article

Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2007

Nicolaidou P, Tsitsika A, Papadimitriou A, Karantana A, Papadopoulou A, Psychou F, Liakopoulou D, Georgouli H, Kakourou T, Chrousos G

Abstract excerpt

We describe four patients (two pairs of children from two unrelated kindreds) from a Greek island, suffering from hereditary vitamin D-resistant rickets (HVDRR) with alopecia. There were two different homozygous mutations in the vitamin D receptor (VDR) gene of the affected members of the two kindreds that resulted in a truncated or missing receptor. The disorder began in early infancy with similar clinical,...

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Identifiers

PMID: 17451081
DOI: 10.1515/jpem.2007.20.3.425

Genes

VDR

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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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