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...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Yongjia Yang, Nian Li, Cheng Liu, Songting Li, Ming Tu, Liu Zhao, Fang Shen, Yu Zheng, Hua Wang, Sha Zhao
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2025-11-01
Serie:	Diagnostics
Soggetti:	<i>SMC5</i> mosaic variegated aneuploidy near-tetraploidy chromosomal instability Atelis syndrome
Accesso online:	https://www.mdpi.com/2075-4418/15/23/3022
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!