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Article

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Epigenetics - 1 Jul 2014

Parenti Ilaria, Rovina Davide, Masciadri Maura, Cereda Anna, Azzollini Jacopo, Picinelli Chiara, Limongelli Giuseppe, Finelli Palma, Selicorni Angelo, Russo Silvia, Gervasini Cristina, Larizza Lidia

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases. The SMC1A gene (Xp11.22), responsible for 5% of CdLS cases, partially escapes X...

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Source

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Identifiers

PMID: 24756084
DOI: 10.4161/epi.28903
PMCID: PMC4143412

Genes

HDAC8
NIPBL
RAD21
SMC3

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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