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 proge...
| Published in: | Haematologica |
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| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Published: |
Ferrata Storti Foundation
2020-07-01
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| Online Access: | https://haematologica.org/article/view/9816 |