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Article

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

Pediatric blood & cancer - 1 Jun 2013

Vogiatzi Paraskevi, Perdigones Nieves, Mason Philip J, Wilson David B, Bessler Monica

Abstract excerpt

We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. Both genes are associated with dyskeratosis congenita and HHS. It was important to determine the importance of these mutations in disease pathogenesis to counsel family members. From genetic analysis...

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Source

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Identifiers

PMID: 23335200
DOI: 10.1002/pbc.24389
PMCID: PMC3860171

Genes

DKC1
TERT

Variants

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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