Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and ...

Source: Orphanet Journal of Rare Diseases - April 26, 2016 Category: Internal Medicine Authors: Veronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet-Lefebvre, Sylvie Daliphard, Marie-Joelle Mozziconacci, Aline Renneville, Paola Baller Source Type: research