Recessive <i>SMC5</i> Variants in a Family with Near-Tetraploidy/Mosaic Variegated Aneuploidy
<b>Background/Objectives:</b> Mosaic variegated aneuploidy (MVA) is a rare chromosomal instability disorder. Biallelic variants in SMC5, a core component of the DNA repair machinery, cause Atelis Syndrome, characterized by severe growth failure and multi-system abnormalities. This study aimed to ide...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI AG
2025-11-01
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| coleção: | Diagnostics |
| Assuntos: | |
| Acesso em linha: | https://www.mdpi.com/2075-4418/15/23/3022 |
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