P

Poirier-Bienvenu Sendromu (POBINDS)

Kalıtsal – AD

Düz filtrum

Prognatizm

Ağız açık-dil dışarıda

Diş anomalileri

Sinir sistemi gelişimi aksamaları

Motor işlev sorunları

Hipotoni

Epilepsi

Otizm

 

  • Poirier K, Hubert L, Viot G, et al. CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. Human Mutation, 38: 932-941, 2017

  • Nakashima M, Tohyama J, Nakagawa E, et al. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of Human Genetics, 64: 313-322, 2019