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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

20 Feb 2019

Abstract excerpt

Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. Methods: We analysed genomic DNA from 11 patients from eight different Turkish families. The patients were recruited for our...

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PMID: 30282619
DOI: 10.4274/jcrpe.galenos.2018.2018.0121

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