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Article

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Human mutation - 1 Aug 2006

Borck Guntram, Zarhrate Mohamed, Cluzeau Céline, Bal Elodie, Bonnefont Jean-Paul, Munnich Arnold, Cormier-Daire Valérie, Colleaux Laurence

Abstract excerpt

Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reported cases, suggesting either genetic heterogeneity or that some NIPBL mutations are not detected by current screening...

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Identifiers

PMID: 16799922
DOI: 10.1002/humu.20380

Genes

NIPBL

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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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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.PMID 16799922Read ↗

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