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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Bibliographic Details
Published in:BMJ Case Rep
Main Authors: Leckey, Bruce D, Carney, John M, Sun, Jessica M, Pavlisko, Elizabeth N
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 2019
Subjects:
Rare Disease
Online Access: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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