Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

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Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani

Journal title: Molecular Cytogenetics

Journal number: 11/1

Journal publisher: BioMed Central

Published year: 2018

DOI identifier: 10.1186/s13039-018-0384-2

ISSN: 1755-8166