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Article

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Journal of medical genetics - 1 Jul 2006

Bhuiyan Z A, Klein M, Hammond P, van Haeringen A, Mannens M M A M, Van Berckelaer-Onnes I, Hennekam R C M

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause CdLS. Mutations have been found in 39% of...

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Source

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Identifiers

PMID: 16236812
DOI: 10.1136/jmg.2005.038240
PMCID: PMC2564552

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.

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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.PMID 16236812Read ↗

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