CYP27A1 基因突变致脑黄腱瘤 1 例报告并文献复习

郭红梅,　李玫,　金玉,　杨光

A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene

　GUO Hongmei, LI Mei, JIN Yu，YANG Guang

临床儿科杂志 . 2017, (11): 841 - . DOI: 10.3969/j.issn.1000-3606.2017.11.010