Joubert syndrome type 17 caused by c.650G＞A and c.956A＞T mutations in C5orf42 gene in children:one case report
YANG Chang-jian
JIANG Da-fei
LI Ren-ke
SHU Xiao-mei
Keywords：Heredodegenerative disordersnervous systemGeneMutationChildCase reports
Publication Date：2023-11-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1052-1055 )