Associated Papers
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Žakelj N et al.
Hgg Advances, 2025
40684264 (PubMed )
Supplement: mmc3.xlsx › Case_Variants
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Nunes-Xavier CE et al.
Plos Genetics, 2025
Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.
Pallarès-Sastre M et al.
Journal of Autism and Developmental Disorders, 2025
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.
Lee S et al.
Frontiers in Pediatrics, 2022
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