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Article

Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Oct 2016

O'Keeffe D T, Tebben P J, Kumar R, Singh R J, Wu Y, Wermers R A

Abstract excerpt

UNLABELLED: Mutations of the CYP24A1 gene can result in hypercalcemia, hyerpercalciuria, and nephrolithiasis, but disease severity is variable. Clinical and biochemical phenotypes were correlated with gene sequence information in a family with two CYP24A1 mutations. A gene dose effect was apparent with monoallelic mutations demonstrating milder disease manifestations than biallelic mutations. INTRODUCTION: The...

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PMID: 27129455
DOI: 10.1007/s00198-016-3615-6

Genes

PTH

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