Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review

De novo germline variants of the casein kinase 2α subunit (CK2α) gene (CSNK2A1) have been reported in individuals with the congenital neuropsychiatric disorder Okur–Chung neurodevelopmental syndrome (OCNS). Here, we report on two unrelated children with OCNS and review the literature to explore the...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Ruo-hao, Tang, Wen-ting, Qiu, Kun-yin, Li, Xiao-juan, Tang, Dan-xia, Meng, Zhe, He, Zhan-wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161887/
https://www.ncbi.nlm.nih.gov/pubmed/34038195
http://dx.doi.org/10.1177/03000605211017063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161887/
https://www.ncbi.nlm.nih.gov/pubmed/34038195
http://dx.doi.org/10.1177/03000605211017063

Ejemplares similares