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Article

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

Journal of medical case reports - 5 Jan 2022

Wilke Matheus V M B, Oliveira Bibiana M, Pereira Alessandra, Doriqui Maria Juliana R, Kok Fernando, Souza Carolina F M

Abstract excerpt

BACKGROUND: Poirier-Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. OBJECTIVE: To report two unrelated cases of children harboring CSNK2B variants...

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Identifiers

PMID: 34983633
DOI: 10.1186/s13256-021-03184-8
PMCID: PMC8728954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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