Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report

Vitamin D-dependent rickets (VDDR) type 1A is a rare autosomal recessive disorder caused by cytochrome P450 family 27 subfamily B member 1 (CYP27B1) mutations and can lead to deficiencies in 1α-hydroxylase activity. The present study describes the case of a 39-year-old male patient who presented wit...

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Detalles Bibliográficos
Autores principales: Yi, Caihong, Xu, Juan, He, Jiangping, Zhang, Xiaofang, Zhang, Xianfeng, Huang, Jiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748631/
https://www.ncbi.nlm.nih.gov/pubmed/36561972
http://dx.doi.org/10.3892/etm.2022.11698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748631/
https://www.ncbi.nlm.nih.gov/pubmed/36561972
http://dx.doi.org/10.3892/etm.2022.11698

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