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

Abstract 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 pres...

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Principais autores:	Benedreky Leo, Intan Hartandy, Susanna Hilda Hutajulu, Mardiah Suci Hardianti, Kartika Widayati, Johan Kurnianda, Ibnu Purwanto
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2026-04-01
Series:	Journal of Medical Case Reports
Assuntos:	TERC Telomere biology disorder Dyskeratosis congenita Aplastic anemia Case report
Acceso en liña:	https://doi.org/10.1186/s13256-026-06011-0
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