Article
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2012
Pehlivan Davut, Hullings Melanie, Carvalho Claudia M B, Gonzaga-Jauregui Claudia G, Loy Elizabeth, Jackson Laird G, Krantz Ian D, Deardorff Matthew A, Lupski James R
Abstract excerpt
PURPOSE: Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by mental retardation, limb abnormalities, distinctive facial features, and hirsutism. Mutations in three genes involved in sister chromatid cohesion, NIPBL, SMC1A, and SMC3, account for ~55% of CdLS cases. The molecular etiology of a significant fraction of CdLS cases remains unknown. We hypothesized that large...
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