Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein

CASK-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental disorders. Whole-g...

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Detalles Bibliográficos
Autores principales: Mori, Takuma, Zhou, Mengyun, Tabuchi, Katsuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454856/
https://www.ncbi.nlm.nih.gov/pubmed/37628707
http://dx.doi.org/10.3390/genes14081656

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454856/
https://www.ncbi.nlm.nih.gov/pubmed/37628707
http://dx.doi.org/10.3390/genes14081656

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