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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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
MDPI AG
2025-11-01
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| Seria: | Diagnostics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.mdpi.com/2075-4418/15/23/3022 |
| Etykiety: |
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