Telomeropathies Archives - Laboratory Notes https://www.laboratorynotes.com/tag/telomeropathies/ Sat, 22 Aug 2026 17:38:34 +0000 en hourly 1 https://wordpress.org/?v=7.1 Dyskeratosis Congenita https://www.laboratorynotes.com/dyskeratosis-congenita/ https://www.laboratorynotes.com/dyskeratosis-congenita/#respond Sat, 22 Aug 2026 16:52:52 +0000 https://www.laboratorynotes.com/?p=29760 Dyskeratosis congenita is a rare inherited telomere‑maintenance disorder caused by mutations in DKC1, TERT, TERC and POT1. Accelerated telomere shortening leads to premature cellular ageing, bone‑marrow failure, mucocutaneous abnormalities and multisystem disease. The condition provides key insight into how telomere biology shapes human ageing and tissue regeneration.

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