A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

著者: Olivier Bluteau, Marie Sébert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Élodie Lainey, Lucie Hernandez, Jean‐Hugues Dalle, Flore Sicre de Fontbrune, Étienne Lengliné, Raphaël Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Müller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier - Blood 2017 被引用: 342

patients, mild pancytopenia with myelodysplasia. This study broadens the molecular and clinical portrait of IBMF syndromes and sheds light on newly recognized disease entities. Using a high-throughput sequencing screen to implement precision medicine at diagnosis can improve patient management and family counseling.