First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders
Over the past five years, the MYCBP2 has emerged as a potential candidate gene associated with neurodevelopmental disorders (NDDs). In 2023, a newly characterized condition, termed MYCBP2-related developmental delay with corpus callosum defects (MDCD), has been reported in eight individuals presenti...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Sciendo
2025-10-01
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| Col·lecció: | Balkan Journal of Medical Genetics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.2478/bjmg-2025-0007 |
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