Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells

Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (<i>NIPBL</i>, <i>SMC1A</i>, <i>SMC3</i>, <i>HDAC8</i>, and <i>RAD21</i>) are the primary...

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Principais autores:	Maddalena Di Nardo, Ian D. Krantz, Antonio Musio
格式:	Artigo
語言:	Inglês
出版:	MDPI AG 2024-12-01
叢編:	Cells
主題:	Cornelia de Lange syndrome cohesin <i>NIPBL</i> <i>HDAC8</i> <i>SMC1A</i> genome instability
在線閱讀:	https://www.mdpi.com/2073-4409/13/23/2025
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