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Cornelia de Lange Syndrome

Liu, J. and Baynam, G. (2010) Cornelia de Lange Syndrome. In: Ahmad, S.I., (ed.) Diseases of DNA Repair. Springer New York, pp. 113-123.

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Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with CdLS. Cohesin regulates sister chromatid cohesion during the mitotis and meiosis. In addition, cohesin has been demonstrated to play a critical role in the regulation of gene expression. Furthermore, multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double strand DNA break repair, chromatin remodeling and maintaining genomic stability. Here, we will discuss the biology of cohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related pr...

Item Type: Book Chapter
Publisher: Springer New York
Copyright: Landes Bioscience and Springer Science+Business Media, LLC
Notes: Series Title: Advances in Experimental Medicine and Biology; Vol. 685. ISSN: 0065-2598
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