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...
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
Galenos Yayincilik
2019-03-01
|
| Edice: | JCRPE |
| Témata: | |
| On-line přístup: |
http://www.jcrpe.org/archives/archive-detail/article-preview/genetic-and-clinical-characteristics-of-patients-w/19707
|