Article
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
EMBO molecular medicine - 1 Oct 2024
Tummala Hemanth, Walne Amanda J, Badat Mohsin, Patel Manthan, Walne Abigail M, Alnajar Jenna, Chow Chi Ching, Albursan Ibtehal, Frost Jennifer M, Ballard David, Killick Sally, Szitányi Peter, Kelly Anne M, Raghavan Manoj, Powell Corrina, Raymakers Reinier, Todd Tony, Mantadakis Elpis, Polychronopoulou Sophia, Pontikos Nikolas, Liao Tianyi, Madapura Pradeep, Hossain Upal, Vulliamy Tom, Dokal Inderjeet
Abstract excerpt
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level. To explore the genetic landscape, we conducted genetic studies on a large collection of clinically diagnosed cases of DC as well as cases exhibiting features resembling DC, referred to as...
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