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

Wilke, MVMB; Oliveira, BM; Pereira, A; Doriqui, MJR; Kok, F; Souza, CFM

Souza, CFM (通讯作者),Hosp Clin Porto Alegre, Med Genet Serv, Rua Ramiro Barcelos 2350,3 Andar, BR-90035007 Porto Alegre, RS, Brazil.

JOURNAL OF MEDICAL CASE REPORTS, 2022; 16 (1):

Abstract

Background Poirier-Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by......

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