儿童C5orf42基因c.650G > A和c.956A > T突变致Joubert综合征17型一例
杨昌键, 蒋达飞, 李仁可, 束晓梅
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
中国现代神经疾病杂志
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2023, (11): 1052
-1055
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DOI: 10.3969/j.issn.1672-6731.2023.11.015
