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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report
BACKGROUND: Inherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulties and because not all the existing forms have as yet been identified, with som...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4411870/ https://ncbi.nlm.nih.gov/pubmed/25516138 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0135-0 |
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