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Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings
Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of t...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6340604/ https://ncbi.nlm.nih.gov/pubmed/30665929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227391 |
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