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Article

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Clinical genetics - 1 May 2012

Sasa G S, Ribes-Zamora A, Nelson N D, Bertuch A A

Abstract excerpt

Dyskeratosis congenita (DC) is a telomere biology disorder characterized by a mucocutaneous triad, aplastic anemia, and predisposition to cancer. Mutations in a narrow segment of TINF2 exon 6 have been recognized to cause often-severe DC that is either sporadic or autosomal dominant. We describe three children with very early presentations of DC, including one with the severe variant known as Revesz syndrome....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21477109
DOI: 10.1111/j.1399-0004.2011.01658.x
PMCID: PMC3844870

Genes

TINF2

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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