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Article

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

Orphanet journal of rare diseases - 17 Aug 2018

Trotta Luca, Norberg Anna, Taskinen Mervi, Béziat Vivien, Degerman Sofie, Wartiovaara-Kautto Ulla, Välimaa Hannamari, Jahnukainen Kirsi, Casanova Jean-Laurent, Seppänen Mikko, Saarela Janna, Koskenvuo Minna, Martelius Timi

Abstract excerpt

BACKGROUND: The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs stem from the depletion of crucial stem cell populations in highly proliferative tissues, resulting from abnormal telomerase function. Due to the wide spectrum of clinical presentations and lack of...

Topics

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Child, Preschool
DNA Helicases
Dyskeratosis Congenita
Exome Sequencing
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30115091
DOI: 10.1186/s13023-018-0864-9
PMCID: PMC6097299

Genes

DKC1
RTEL1
TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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