Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Germline variants in the CTNNB1 gene, encoding β-catenin protein, cause severe neurodevelopmental alterations manifested early in the infancy, and define the CTNNB1 syndrome. Patients with CTNNB1 syndrome display heterogeneous clinical manifestations, and most of them carry CTNNB1 pathogenic nonsens...
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science (PLoS)
2025-10-01
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| coleção: | PLoS Genetics |
| Acesso em linha: | https://doi.org/10.1371/journal.pgen.1011907 |
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