Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant-first reported case from Indonesia: a case report.

Abstract excerpt

BACKGROUND: Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by defective telomere maintenance. It often presents with mucocutaneous features, cytopenias, and progressive organ involvement, but remains underrecognized in resource-limited settings. CASE PRESENTATION: We report a 32-year-old Indonesian male of Javanese ethnicity who presented with progressive anemia,...

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