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

• Egile Nagusiak: Xiaolan Chen (Egilea), Yunli Han (Egilea), Xing Li (Egilea), Shiqin Huang (Egilea), Hai Yuan (Egilea), Yuanhan Qin (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...