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Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the com...

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Detalles Bibliográficos
Autores principales: Fernández-Martínez, Lorena, Villegas, José Antonio, Santamaría, Íñigo, Pitiot, Ana S., Alvarado, Marta G., Fernández, Soledad, Torres, Héctor, Paredes, Ángeles, Blay, Pilar, Balbín, Milagros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320664/
https://www.ncbi.nlm.nih.gov/pubmed/28222777
http://dx.doi.org/10.1186/s12885-017-3136-5