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Article

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

European journal of human genetics : EJHG - 1 Jun 2018

Norberg Anna, Rosén Anna, Raaschou-Jensen Klas, Kjeldsen Lars, Moilanen Jukka S, Paulsson-Karlsson Ylva, Baliakas Panagiotis, Lohi Olli, Ahmed Aymen, Kittang Astrid O, Larsson Pär, Roos Göran, Degerman Sofie, Hultdin Magnus

Abstract excerpt

Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29483670
DOI: 10.1038/s41431-018-0112-8
PMCID: PMC5974393

Genes

TERT
DKC1
TINF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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