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Article

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

Clinical genetics - 1 Dec 2010

Castronovo P, Delahaye-Duriez A, Gervasini C, Azzollini J, Minier F, Russo S, Masciadri M, Selicorni A, Verloes A, Larizza L

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects. Clinical manifestations of CdLS can be extremely variable. Mutations in NIPBL, SMC1A and SMC3 genes, encoding for a regulator and two subunits of the cohesin complex, respectively, are found in 60-65% of CdLS patients. We report on a male with CdLS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20331678
DOI: 10.1111/j.1399-0004.2010.01408.x

Genes

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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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?PMID 20331678Read ↗

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