SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients

Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumours such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumours (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) and oth...

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Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: Trobo, Sofia, Ramirez, Pablo, Perez- Garrido, Natalia, Touzon, Maria, Vaiani, Elisa, Costanzo, Mariana, Herzovich, Viviana, Moresco, Angela, Dujovne, Noelia, Lubieniecki, Fabiana, Galeano, Jesica, Chantada, Guillermo, Obregon, Maria Gabriela, Belgorosky, Alicia, Marino, Roxana
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Genetics and Development (including Gene Regulation)
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553004/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-047
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