Two different presentations of de novo variants of CSNK2B: two case reports

BACKGROUND: Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with...

Descripción completa

Detalles Bibliográficos
Autores principales: Wilke, Matheus V. M. B, Oliveira, Bibiana M., Pereira, Alessandra, Doriqui, Maria Juliana R., Kok, Fernando, Souza, Carolina F. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728954/
https://www.ncbi.nlm.nih.gov/pubmed/34983633
http://dx.doi.org/10.1186/s13256-021-03184-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728954/
https://www.ncbi.nlm.nih.gov/pubmed/34983633
http://dx.doi.org/10.1186/s13256-021-03184-8

Ejemplares similares