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Article

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

Human molecular genetics - 1 Feb 2009

Revenkova Ekaterina, Focarelli Maria Luisa, Susani Lucia, Paulis Marianna, Bassi Maria Teresa, Mannini Linda, Frattini Annalisa, Delia Domenico, Krantz Ian, Vezzoni Paolo, Jessberger Rolf, Musio Antonio

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A and SMC3 are present in approximately 65% of...

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Source

Open in PubMed Open full text

Identifiers

PMID: 18996922
DOI: 10.1093/hmg/ddn369
PMCID: PMC2722190

Genes

SMC3
NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18996922-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.PMID 18996922Read ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.Semantic proximity Read ↗

Cornelia de Lange syndrome, cohesin, and beyond.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.Semantic proximity Read ↗

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Semantic proximity Read ↗

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.Semantic proximity Read ↗

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