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Article

On the molecular etiology of Cornelia de Lange syndrome.

Annals of the New York Academy of Sciences - 1 Jan 2009

Dorsett Dale, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is genetically heterogeneous and is usually sporadic, occurring approximately once per 10,000 births. CdLS individuals display diverse and variable deficits in growth, mental development, limbs, and organs. In the past few years it has been shown that CdLS is caused by gene mutations affecting proteins involved in sister chromatid cohesion. Studies in model organisms, and more...

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Identifiers

PMID: 19154515
DOI: 10.1111/j.1749-6632.2008.03450.x
PMCID: PMC2733214

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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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Chromatinopathies: A focus on Cornelia de Lange syndrome.Semantic proximity Read ↗

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

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

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