CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients

Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to pancytopenia due to exhaustion of hematopoietic progen...

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Detalles Bibliográficos
Autores principales: Germeshausen, Manuela, Ballmaier, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409039/
https://www.ncbi.nlm.nih.gov/pubmed/32703794
http://dx.doi.org/10.3324/haematol.2020.257972

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409039/
https://www.ncbi.nlm.nih.gov/pubmed/32703794
http://dx.doi.org/10.3324/haematol.2020.257972

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