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Article

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity.

Genes - 9 Sept 2024

Cipriano Lorenzo, Russo Roberta, Andolfo Immacolata, Manno Mariangela, Piscopo Raffaele, Iolascon Achille, Piscopo Carmelo

Abstract excerpt

BACKGROUND: The STAG1 gene encodes a component of the cohesin complex, involved in chromosome segregation and DNA repair. Variants in genes of the cohesin complex determine clinical conditions characterized by facial dysmorphisms, upper limb anomalies, intellectual disability, and other neurological deficits. However, to date, the STAG1-related clinical phenotype has been poorly investigated (around 20 cases...

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Identifiers

PMID: 39336775
DOI: 10.3390/genes15091184
PMCID: PMC11431552

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A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity.PMID 39336775Read ↗

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