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Article

Cohesinopathies: One ring, many obligations.

Mutation research - 1 Dec 2008

McNairn Adrian J, Gerton Jennifer L

Abstract excerpt

Over 75 years ago, two human genetic disorders were initially described and named for their founding physicians: Cornelia de Lange (CdLS) and Roberts syndrome (RBS)/SC Phocomelia (SC). In the past 4 years, genetic studies of patients have revealed the primary genes involved in these disorders are the essential, evolutionarily conserved components of the cohesin pathway. This pathway serves to facilitate cohesion...

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Topics

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Share to Gene Expression Regulation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to De Lange Syndrome

Share to CCCTC-Binding Factor

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Share to Chromosomal Proteins, Non-Histone

Source

Identifiers

PMID: 18786550
DOI: 10.1016/j.mrfmmm.2008.08.010

Genes

ESCO2
NIPBL
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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