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Article

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.

Hormone research in paediatrics - 1 Jan 2016

Tahir Sophia, Demirbilek Hüseyin, Ozbek Mehmet Nuri, Baran Riza Taner, Tanriverdi Sibel, Hussain Khalid

Abstract excerpt

BACKGROUND AND AIMS: Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1). Mutations in CYP27B1 disrupt or lead to a total loss of the 1-α-hydroxylase activity and require treatment with physiological doses of calcitriol. PATIENTS AND METHODS: A genetic analysis of the CYP27B1 gene was conducted in 22...

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PMID: 26982175
DOI: 10.1159/000444483

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