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

doi:10.1186/s13023-016-0432-0

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Article

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

Orphanet journal of rare diseases - 26 Apr 2016

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

Abstract excerpt

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 it better and earlier, before leukaemia occurrence and secondly to optimize appropriate monitoring and treatment, in...

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Identifiers

PMID: 27112265
DOI: 10.1186/s13023-016-0432-0
PMCID: PMC4845427

Genes

RUNX1

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