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Article

Germline RTEL1 Variants in Telomere Biology Disorders.

American journal of medical genetics. Part A - 1 Feb 2025

Thompson Ashley S, Niewisch Marena R, Giri Neelam, McReynolds Lisa J, Savage Sharon A

Abstract excerpt

Rare germline variation in regulator of telomere elongation helicase 1 (RTEL1) is associated with telomere biology disorders (TBDs). Biallelic RTEL1 variants result in childhood onset dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome whereas heterozygous individuals usually present later in life with pulmonary fibrosis or bone marrow failure. We compiled all TBD-associated RTEL1 variants in the literature...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39279436
DOI: 10.1002/ajmg.a.63882

Genes

RTEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Germline RTEL1 Variants in Telomere Biology Disorders.PMID 39279436Read ↗

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