Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F60077344%3A_____%2F20%3A00531945" target="_blank" >RIV/60077344:_____/20:00531945 - isvavai.cz</a>
Alternative codes found
RIV/68378050:_____/20:00531945 RIV/00064203:_____/20:10410819 RIV/00216208:11130/20:10410819
Result on the web
<a href="https://www.nature.com/articles/s41375-020-0769-1" target="_blank" >https://www.nature.com/articles/s41375-020-0769-1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41375-020-0769-1" target="_blank" >10.1038/s41375-020-0769-1</a>

Result language
angličtina
Original language name
Chromosome 21 gain is dispensable for transient myeloproliferative disorder driven by a novel GATA1 mutation
Original language description
Transient myeloproliferative disease (TMD) represents a complex disorder of fetal hematopoiesis and it manifests in ~10% of newborns with Down syndrome. The disease typically remits without treatment upon the switch to adult-type hematopoiesis during the first months of life. Nevertheless, there is a high risk of progression into acute megakaryocytic leukemia during early childhood. In this manuscript, we describe the first case of TMD developing on a GATA1-mutated background without the involvement of trisomy 21 and down syndrome.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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