Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
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Parenti I, et al. Among authors: yalcin b.
Nat Commun. 2026 Mar 30;17(1):3036. doi: 10.1038/s41467-026-71177-6.
Nat Commun. 2026.
PMID: 41912533
Free PMC article.