A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

• Main Authors: Sixian Wu (Author), Chuan Jiang (Author), Jiaman Li (Author), Guohui Zhang (Author), Ying Shen (Author), Jing Wang (Author)
• Formato: Livro
• Publicado em: BMC, 2022-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder that affects female...