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

BACKGROUND: 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 the genotype-phenotype correlations of this entity in order to, first, screen i...

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發表在:Orphanet J Rare Dis
Main Authors: Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi
格式: Artigo
語言:Inglês
出版: BioMed Central 2016
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4845427/
https://ncbi.nlm.nih.gov/pubmed/27112265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0432-0
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