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Article

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Nature genetics - 1 May 2006

Musio Antonio, Selicorni Angelo, Focarelli Maria Luisa, Gervasini Cristina, Milani Donatella, Russo Silvia, Vezzoni Paolo, Larizza Lidia

Abstract excerpt

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. W...

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Source

Identifiers

PMID: 16604071
DOI: 10.1038/ng1779

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16604071-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.PMID 16604071Read ↗

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.Semantic proximity Read ↗

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.Semantic proximity Read ↗

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

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Semantic proximity Read ↗

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

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