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

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

Objective:Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-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 ana...

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Bibliographic Details
Main Authors: Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu
Format: Article
Language:English
Published: Galenos Yayincilik 2019-03-01
Series:JCRPE
Subjects:
Vitamin D
vitamin D dependent rickets
CYP27B1 gene
1α hydroxylase
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/genetic-and-clinical-characteristics-of-patients-w/19707

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