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

Abstract


DOI: 10.3969/j.issn.1672⁃6731.2023.11.015

Keywords


Heredodegenerative disorders, nervous system; Gene; Mutation; Child; Case reports

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