CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

BACKGROUND: Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotype. To date, 20 affected males representing 13 different pathogenic variants...

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Detalles Bibliográficos
Autores principales: Higa, Leigh Ann, Wardley, Jennifer, Wardley, Christopher, Singh, Susan, Foster, Timothy, Shen, Joseph J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281706/
https://www.ncbi.nlm.nih.gov/pubmed/34266427
http://dx.doi.org/10.1186/s12920-021-01033-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281706/
https://www.ncbi.nlm.nih.gov/pubmed/34266427
http://dx.doi.org/10.1186/s12920-021-01033-7

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