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Article

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

American journal of medical genetics. Part A - 1 Jan 2012

Hoppman-Chaney Nicole, Jang Jin Sung, Jen Jin, Babovic-Vuksanovic Dusica, Hodge Jennelle C

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, cleft palate, limb defects, growth retardation, and developmental delay. Approximately 60% of patients with CdLS have an identifiable mutation in the NIPBL gene at 5p13.2. Recently, an X-linked form of CdLS with a generally milder phenotype was attributed to mutation of the structural maintenance...

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Source

Identifiers

PMID: 22106055
DOI: 10.1002/ajmg.a.34360

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.

Related research

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In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.PMID 22106055Read ↗

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 ↗

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.Semantic proximity Read ↗

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.Semantic proximity Read ↗

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

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Semantic proximity Read ↗

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

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.Semantic proximity Read ↗

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

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].Semantic proximity Read ↗

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.Semantic proximity Read ↗

Novel mosaic variants in two patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Semantic proximity Read ↗

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