A Novel Likely Pathogenic Variant in the RUNX1 Gene as the Cause of Congenital Thrombocytopenia

INTRODUCTION: Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The...

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Detalles Bibliográficos
Autores principales: Despotović, M, Pereza, N, Peterlin, B, Ostojić, S, Golob, B, Maver, A, Roganović, J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985359/
https://www.ncbi.nlm.nih.gov/pubmed/36880038
http://dx.doi.org/10.2478/bjmg-2022-0009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985359/
https://www.ncbi.nlm.nih.gov/pubmed/36880038
http://dx.doi.org/10.2478/bjmg-2022-0009

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