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

Crossref DOI link: https://doi.org/10.1186/s13039-018-0384-2

Published Online: 2018-06-07

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Aristidou, Constantia

Theodosiou, Athina

Ketoni, Andria

Bak, Mads

Mehrjouy, Mana M.

Tommerup, Niels

Sismani, Carolina https://orcid.org/0000-0002-9296-8347
Funding

Funding for this research was provided by:

The Lundbeck Foundation (2013-14290)

The University of Copenhagen’s Programme for Interdisciplinary Research

The Danish Council for Independent Research - Medical Sciences (4183-00482B)

Telethon Cyprus

Norway Grants through the Directorate General for European Programmes, Coordination and Development of the Republic of Cyprus
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Article History

Received: 22 January 2018

Accepted: 15 May 2018

First Online: 7 June 2018

Ethics approval and consent to participate

: The study was approved by the National bioethics committee as part of the Translation Facility Application (ΕΕΒΚ/ΕΠ/2-13/09). Informed consents were signed from all participants.

: The authors declare that they have no competing interests.

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