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