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A familial SAMD9 variant present in pediatric myelodysplastic syndrome

Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an aggressive course of MDS with excess blasts who was found to...

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Detalles Bibliográficos
Autores principales: Rahim, Mahvish Q., Rahrig, April, Overholt, Kathleen, Conboy, Erin, Czader, Magdalena, Saraf, Amanda June
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240840/
https://www.ncbi.nlm.nih.gov/pubmed/37160314
http://dx.doi.org/10.1101/mcs.a006256