Psychomotor development and attention problems caused by a splicing variant of CNKSR2

BACKGROUND: Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function. CASE PRESENTATION: Whole-exome sequencing was applied to...

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Detalles Bibliográficos
Autores principales: Zhang, Yi, Yu, Tingting, Li, Niu, Wang, Jiwen, Wang, Jian, Ge, Yihua, Yao, Ruen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727132/
https://www.ncbi.nlm.nih.gov/pubmed/33298018
http://dx.doi.org/10.1186/s12920-020-00844-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727132/
https://www.ncbi.nlm.nih.gov/pubmed/33298018
http://dx.doi.org/10.1186/s12920-020-00844-4

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