Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature

The Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare disease caused by mutations in the CSNK2B gene, which is characterized by intellectual disability and early-onset epilepsy. Mosaicism has not been previously reported in CSNK2B gene. POBINDS is autosomal dominant and almost all rep...

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Detalles Bibliográficos
Autores principales: Chen, Xiaolan, Han, Yunli, Li, Xing, Huang, Shiqin, Yuan, Hai, Qin, Yuanhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067874/
https://www.ncbi.nlm.nih.gov/pubmed/37020656
http://dx.doi.org/10.3389/fped.2023.967701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067874/
https://www.ncbi.nlm.nih.gov/pubmed/37020656
http://dx.doi.org/10.3389/fped.2023.967701

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