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Article

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.

BMC medical genetics - 3 Apr 2013

Gervasini Cristina, Picinelli Chiara, Azzollini Jacopo, Rusconi Daniela, Masciadri Maura, Cereda Anna, Marzocchi Cinzia, Zampino Giuseppe, Selicorni Angelo, Tenconi Romano, Russo Silvia, Larizza Lidia, Finelli Palma

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively. METHODS: We recruited 50 patients with a CdLS clinical diagnosis or with...

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Identifiers

PMID: 23551878
DOI: 10.1186/1471-2350-14-41
PMCID: PMC3626829

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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