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Article

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

American journal of human genetics - 7 Mar 2013

Walne Amanda J, Vulliamy Tom, Kirwan Michael, Plagnol Vincent, Dokal Inderjeet

Abstract excerpt

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and...

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Share to Microcephaly
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Analysis, Protein

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Source

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Identifiers

PMID: 23453664
DOI: 10.1016/j.ajhg.2013.02.001
PMCID: PMC3591859

Genes

RTEL1

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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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.PMID 23453664Read ↗

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