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Article

CTC1 Mutations in a patient with dyskeratosis congenita.

Pediatric blood & cancer - 1 Aug 2012

Keller Rachel B, Gagne Katelyn E, Usmani G Naheed, Asdourian George K, Williams David A, Hofmann Inga, Agarwal Suneet

Abstract excerpt

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome...

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Share to Adolescent
Share to Dyskeratosis Congenita
Share to Flow Cytometry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to In Situ Hybridization, Fluorescence

Share to Telomere

Share to Telomere-Binding Proteins

Share to Tomography, X-Ray Computed

Source

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Identifiers

PMID: 22532422
DOI: 10.1002/pbc.24193
PMCID: PMC3374040

Genes

CTC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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