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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
Authors:Kloosterman Wigard P  Tavakoli-Yaraki Masoumeh  van Roosmalen Markus J  van Binsbergen Ellen  Renkens Ivo  Duran Karen  Ballarati Lucia  Vergult Sarah  Giardino Daniela  Hansson Kerstin  Ruivenkamp Claudia A L  Jager Myrthe  van Haeringen Arie  Ippel Elly F  Haaf Thomas  Passarge Eberhard  Hochstenbach Ron  Menten Björn  Larizza Lidia  Guryev Victor  Poot Martin  Cuppen Edwin
Institution:Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands. w.kloosterman@umcutrecht.nl
Abstract:
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  • Highlights? Constitutional complex chromosomal rearrangements display unanticipated complexity resembling chromothripsis ? Some chromothripsis rearrangements involve clustered double-stranded DNA breaks ? There exist distinct classes of chromothripsis rearrangements
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