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Article

Cohesinopathies of a feather flock together.

PLoS genetics - 1 Jan 2013

Skibbens Robert V, Colquhoun Jennifer M, Green Megan J, Molnar Cody A, Sin Danielle N, Sullivan Brian J, Tanzosh Eden E

Abstract excerpt

Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering reactions that comprise cohesion are required for high fidelity chromosome segregation, but cohesin tethers also...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24367282
DOI: 10.1371/journal.pgen.1004036
PMCID: PMC3868590

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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