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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Crossref DOI link: https://doi.org/10.1186/s13023-018-0864-9

Published Online: 2018-08-17

Published Print: 2018-12

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

Authors

Trotta, Luca

Norberg, Anna

Taskinen, Mervi

Béziat, Vivien

Degerman, Sofie

Wartiovaara-Kautto, Ulla

Välimaa, Hannamari

Jahnukainen, Kirsi

Casanova, Jean-Laurent

Seppänen, Mikko

Saarela, Janna https://orcid.org/0000-0002-0853-6219
Koskenvuo, Minna

Martelius, Timi
Funding

Funding for this research was provided by:

Sanofi-Genzyme

ANR (NKIR-ANR-13-PDOC-0025-01)

Uppsala-Umeå Comprehensive Cancer Consortium
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Article History

Received: 11 April 2018

Accepted: 2 July 2018

First Online: 17 August 2018

Ethics approval and consent to participate

: This study was conducted in accordance with the principles of the Helsinki Declaration and was approved by the Coordinating Ethics Committee of Helsinki University Hospital.

: An informed consent was received from patients and in case of children, from their parents.

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.