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Article

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

European journal of medical genetics - 1 Jan 2000

Ratajska Magdalena, Wierzba Jolanta, Pehlivan Davut, Xia Zhilian, Brundage Ellen K, Cheung Sau Wai, Stankiewicz Pawel, Lupski James R, Limon Janusz

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. Approximately 60-65% of the CdLS subjects have mutation in one of three cohesin proteins, a main regulator of cohesin-associated protein, NIPBL, and two components of the cohesin ring structure SMC1A and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20727427
DOI: 10.1016/j.ejmg.2010.08.002

Genes

NIPBL
SMC3

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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