A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review

• Asıl Yazarlar: Ying Zhang (Yazar), Yanyan Nie (Yazar), Yu Mu (Yazar), Jie Zheng (Yazar), Xiaowei Xu (Yazar), Fang Zhang (Yazar), Jianbo Shu (Yazar), Yang Liu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2022-05-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss...