Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

BACKGROUND: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. RESULTS:...

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Detalles Bibliográficos
Autores principales: Pena-Couso, Laura, Ercibengoa, María, Mercadillo, Fátima, Gómez-Sánchez, David, Inglada-Pérez, Lucía, Santos, María, Lanillos, Javier, Gutiérrez-Abad, David, Hernández, Almudena, Carbonell, Pablo, Letón, Rocío, Robledo, Mercedes, Rodríguez-Antona, Cristina, Perea, José, Urioste, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886852/
https://www.ncbi.nlm.nih.gov/pubmed/35227301
http://dx.doi.org/10.1186/s13023-021-02079-7

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