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

被引:0
作者
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 Ballerini
Guy Leverger
Hagay Sobol
Philippe Jonveaux
Claude Preudhomme
Paquita Nurden
Thomas Lecompte
Remi Favier
机构
[1] Centre Hospitalier Universitaire de Nancy,Service d’Hématologie Biologique
[2] Centre de Compétence Nord-Est des Pathologies Plaquettaires (CCPP),Laboratoire de Génétique
[3] Centre Hospitalier Universitaire de Nancy,Service d’Hématologie Biologique, Centre de Biologie Pathologie
[4] Centre Hospitalier Régional Universitaire de Lille,Centre Régional de Traitement des Hémophiles
[5] Laboratoire d’Hématologie,Laboratoire d’Hématologie
[6] Hôpital La Timone,Département de Biopathologie
[7] Assistance Publique-Hôpitaux de Paris,Service d’Hématologie
[8] Laboratoire d’Hématologie,Faculté de Médecine
[9] La Pitié Salpetrière,Assistance Publique
[10] Centre Hospitalier Universitaire de Rennes,Hôpitaux de Paris, Département d’Hématologie
[11] Centre Hospitalier Universitaire Robert Debré,Service d’Hématologie Biologique
[12] Institut Paoli-Calmettes,undefined
[13] Centre de Recherche en Cancérologie de Marseille,undefined
[14] Hôpitaux Universitaires de Genève,undefined
[15] Université de Genève,undefined
[16] Hôpital Armand Trousseau,undefined
[17] Inserm U1170,undefined
[18] Centre de Référence des Pathologies Plaquettaires (CRPP),undefined
[19] Hôpital La Timone,undefined
[20] Hôpital d’enfants Armand Trousseau,undefined
来源
Orphanet Journal of Rare Diseases | / 11卷
关键词
Thrombocytopenia; Familial platelet disorder with predisposition to acute myeloid leukaemia; RUNX1; Leukaemia; δ-granule release defect;
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