Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female

Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestatio...

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Veröffentlicht in:Clinical case reports 2020, Vol.8 (12), p.2373-2376
Hauptverfasser: Tutor, James D, Miller, Stephen F, Al Zubeidi, Hiba, Sheyn, Anthony, Zhang, Jie, Williams, Regan, McGee, Rose B
Format: Report
Sprache:eng
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Zusammenfassung:Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestations of this syndrome are present or develop.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3098