Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up

Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up

Abstract Objective Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. The objectives of this study were twofold: (1) to analyze the clinical characteristics and therapy of two patients with VDDR-IA from two separat...

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Bibliographic Details
Main Authors: Yunfei Li, Xin Yuan, Ruimin Chen, Xiangquan Lin, Huakun Shangguan, Xiaohong Yang, Ying Zhang
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Vitamin D-dependent rickets type IA
CYP27B1
Genetic sequence analysis
Treatment
Nephrocalcinosis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01558-7

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http://link.springer.com/article/10.1186/s13023-020-01558-7

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