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Article

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jun 2015

Damiani F M, Martin R M, Latronico A C, Ferraz-de-Souza B

Abstract excerpt

UNLABELLED: Adding to the debate around vitamin D's effects on skeletal health, we report the long-term follow-up of two patients with severe vitamin D receptor mutations, who had normal bone mass acquisition and normalization of calcemia around puberty, suggesting that vitamin D might not be essential for skeletal health in adulthood. INTRODUCTION: Vitamin D plays a pivotal role in calcium homeostasis, and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25708797
DOI: 10.1007/s00198-015-3076-3

Genes

VDR

Variants

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