Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report
Chang-jian YANG, Da-fei JIANG, Ren-ke LI, Xiao-mei SHU
Chinese Journal of Contemporary Neurology and Neurosurgery . 2023, (11): 1052 -1055 .  DOI: 10.3969/j.issn.1672-6731.2023.11.015

　 Copyright © Chinese Journal of Contemporary Neurology and Neurosurgery, All Rights Reserved.
Tel: 022-59065611　
E-mail：xdsjjbzz@263.net.cn
Powered by Beijing Magtech Co. Ltd,.