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...

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Detalles Bibliográficos
Autores principales: Li, Yunfei, Yuan, Xin, Chen, Ruimin, Lin, Xiangquan, Shangguan, Huakun, Yang, Xiaohong, Zhang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528464/
https://www.ncbi.nlm.nih.gov/pubmed/33004071
http://dx.doi.org/10.1186/s13023-020-01558-7

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