Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: report of a novel CYP27A1 mutation and literature review

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder associated with mutations in the CYP27A1 gene, and the genetic features of CTX in Taiwanese have not been examined before.

Source: Journal of Clinical Lipidology - October 9, 2019 Category: Lipidology Authors: Chia-Wei Lee, Jun-Jun Lee, Yen-Feng Lee, Pei-Wen Wang, Tai-Long Pan, Wen-Neng Chang, Meng-Han Tsai Tags: Original Research Source Type: research