Article
Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.
Mutation research - 25 Aug 2008
Cabral Rosa Estela Caseira, Queille Sophie, Bodemer Christine, de Prost Yves, Neto Januario Bispo Cabral, Sarasin Alain, Daya-Grosjean Leela
Abstract excerpt
Rothmund-Thomson syndrome (RTS), a rare recessive autosomal disorder, presents genome instability and clinical heterogeneity with growth deficiency, skin and bone defects, premature aging symptoms and cancer susceptibility. A subset of RTS patients presents mutations of the RECQL4 gene, member of the RecQ family of DNA helicases, including the RECQL2 (BLM) and RECQL3 (WRN) genes, defective in the cancer prone...
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