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

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 females and is...

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Detalles Bibliográficos
Autores principales: Wu, Sixian, Jiang, Chuan, Li, Jiaman, Zhang, Guohui, Shen, Ying, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169347/
https://www.ncbi.nlm.nih.gov/pubmed/35668446
http://dx.doi.org/10.1186/s12920-022-01275-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169347/
https://www.ncbi.nlm.nih.gov/pubmed/35668446
http://dx.doi.org/10.1186/s12920-022-01275-z

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