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Article

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.

Genetic testing and molecular biomarkers - 1 Sept 2012

Zhong Qiulian, Liang Desheng, Liu Jing, Xue Jinjie, Wu Lingqian

Abstract excerpt

AIMS: Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes. So far, there has been no report of a mutation analysis in Chinese patients with CdLS, while 12 cases have been clinically described. In the present study, we tried to search for pathogenic mutations of the NIPBL, SMC1A, and SMC3 genes in four patients with CdLS...

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Source

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Identifiers

PMID: 22857006
DOI: 10.1089/gtmb.2011.0383
PMCID: PMC3438809

Genes

NIPBL
SMC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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