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

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 separate Chines...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Li, Yunfei, Yuan, Xin, Chen, Ruimin, Lin, Xiangquan, Shangguan, Huakun, Yang, Xiaohong, Zhang, Ying
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7528464/
https://ncbi.nlm.nih.gov/pubmed/33004071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01558-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados