Article
Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients.
British journal of haematology - 1 Nov 2024
Maillet François, Galimard Jacques-Emmanuel, Borie Raphaël, Lainey Elodie, Larcher Lise, Passet Marie, Plessier Aurélie, Leblanc Thierry, Terriou Louis, Lebon Delphine, Alcazer Vincent, Cathebras Pascal, Loschi Michael, Wadih Abou-Chahla, Marcais Ambroise, Marceau-Renaut Alice, Couque Nathalie, Lioure Bruno, Soulier Jean, Ba Ibrahima, Socié Gérard, Peffault de Latour Regis, Kannengiesser Caroline, Sicre de Fontbrune Flore
Abstract excerpt
Data on haematological features of telomere biology disorders (TBD) remain scarce. We describe haematological, extra-haematological characteristics and prognosis of 127 genetically confirmed TBD patients diagnosed after the age of 15. Ninety-three index cases and 34 affected relatives were included. At diagnosis of TBD, 76.3% of index cases had haematological features, half pulmonary features and a third liver...
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