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Article

A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex.

Pediatric blood & cancer - 1 Dec 2010

Sarper Nazan, Zengin Emine, Kılıç Suar Çakı

Abstract excerpt

A 26-month-old male presented with bone marrow failure and dystrophic nail lesions mimicking onychomycosis. There was no skin finding. Treatment with androgen and methylprednisolone was started due to unavailability of a matched-related hematopoietic stem cell donor. After 30 months, transfusion support was required. TINF2 mutation was identified at the age of five and dyskeratosis congenita (DC) was confirmed....

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Source

Identifiers

PMID: 20979174
DOI: 10.1002/pbc.22624

Genes

TINF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex.PMID 20979174Read ↗

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TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.Semantic proximity Read ↗

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.Semantic proximity Read ↗

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