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
Case report: Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirier-Bienvenu neurodevelopmental syndrome and literature review.
Zhang X et al.
Frontiers in Medicine, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X et al.
Frontiers in Pediatrics, 2023
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A et al.
Genes, 2022
Two different presentations of de novo variants of CSNK2B: two case reports.
Wilke MVMB et al.
Journal of Medical Case Reports, 2022
De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome.
Yang Q et al.
Frontiers in Neurology, 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
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S et al.
Neurogenetics, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME et al.
Epilepsia, 2021
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.
Li J et al.
Scientific Reports, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
Nakashima M et al.
Journal of Human Genetics, 2019
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