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

• Ngā kaituhi matua: Xiaolan Chen (Author), Yunli Han (Author), Xing Li (Author), Shiqin Huang (Author), Hai Yuan (Author), Yuanhan Qin (Author)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...