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Article

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Human mutation - 1 Dec 2013

Mannini Linda, Cucco Francesco, Quarantotti Valentina, Krantz Ian D, Musio Antonio

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous developmental disorder. Clinical features include growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. The increased understanding of the genetic basis of CdLS has led to diagnostic improvement and expansion of the phenotype. Mutations in five genes (NIPBL, SMC1A, SMC3,...

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Source

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Identifiers

PMID: 24038889
DOI: 10.1002/humu.22430
PMCID: PMC3880228

Genes

HDAC8
NIPBL
RAD21
SMC3

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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