CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Zhao-Ran, Zhou, Yu-Ling, Jin, Qi, Xie, Yin-Yin, Meng, Hong-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254194/
https://www.ncbi.nlm.nih.gov/pubmed/35949830
http://dx.doi.org/10.12998/wjcc.v10.i18.6168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254194/
https://www.ncbi.nlm.nih.gov/pubmed/35949830
http://dx.doi.org/10.12998/wjcc.v10.i18.6168

Ejemplares similares