Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report

Bibliographic Details
Main Authors:	YANG Chang⁃jian, JIANG Da⁃fei, LI Ren⁃ke, SHU Xiao⁃mei
Format:	Article
Language:	English
Published:	Tianjin Huanhu Hospital 2023-11-01
Series:	Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:	heredodegenerative disorders, nervous system gene mutation child case reports
Online Access:	http://www.cjcnn.org/index.php/cjcnn/article/view/2791

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