Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and many other abnormalities. CdLS individuals were recently shown to have heterozygous mutations in a previously uncharacterised gene, NIPBL, which encodes delangin, a homologue of fungal Scc2-type sister chromatid cohesion proteins and the Drosophila Nipped-B...

Topics

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• Chromosomes
• De Lange Syndrome
• DNA Repair
• Gene Expression Regulation, Developmental
• NIPBL gene