Associated Papers
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D et al.
Molecular Genetics & Genomic Medicine, 2024
38037515 (PubMed )
Supplement: MGG3-12-e2327-s001.xlsx › Sheet1
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif M et al.
Hgg Advances, 2022
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.
Zhang W et al.
Frontiers in Neuroscience, 2022
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
Poirier K et al.
Human Mutation, 2017
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