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Article

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.

American journal of medical genetics. Part A - 1 Apr 2022

Çepni Ece, Satkın Nihan Bilge, Moheb Lia Abbasi, Rocha Maria Eugenia, Kayserili Hülya

Abstract excerpt

Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential telomerase components. Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings....

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Identifiers

PMID: 34890115
DOI: 10.1002/ajmg.a.62602

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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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Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.PMID 34890115Read ↗

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A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.Semantic proximity Read ↗

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Semantic proximity Read ↗

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