Guilan Xie Yan Zhang Wenfang Yang Liren Yang Ruiqi Wang Mengmeng Xu Landi Sun Boxing Zhang Xiaoyi Cui
10.3389/fgene.2022.856636
Front Genet
2022 Sep 7;13:856636.
cask gene cerebellar hypoplasia intellectual disability microcephaly whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36159992/
Case Reports
PMC9490368
36159992
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
2022