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

Li, ZR; Zhou, YL; Jin, Q; Xie, YY; Meng, HM

Meng, HM (通讯作者),Jilin Univ, Hosp 1, Dept Neurol, 71 Xinmin St, Changchun 130000, Jilin, Peoples R China.

WORLD JOURNAL OF CLINICAL CASES, 2022; 10 (18): 6168

Abstract

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence......

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