Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Qing-Qing TaoYun ZhangHui-Xia LinHai-Lin DongWang NiZhi-Ying WuPublished in: Orphanet journal of rare diseases (2019)
Our study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.