TY  - JOUR
AU  - Pena-Couso, Laura
AU  - Ercibengoa, María
AU  - Mercadillo, Fátima
AU  - Gómez-Sánchez, David
AU  - Inglada-Pérez, Lucía
AU  - Santos, María
AU  - Lanillos, Javier
AU  - Gutiérrez-Abad, David
AU  - Hernández, Almudena
AU  - Carbonell, Pablo
AU  - Letón, Rocío
AU  - Robledo, Mercedes
AU  - Rodríguez-Antona, Cristina
AU  - Perea, José
AU  - Urioste, Miguel
AU  - PHTS Working Group
PY  - 2022
DO  - 10.1186/s13023-021-02079-7
UR  - http://hdl.handle.net/10668/20337
T2  - Orphanet journal of rare diseases
AB  - 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...
LA  - en
KW  - Cowden syndrome
KW  - Exome
KW  - NGS
KW  - PTEN gene
KW  - PTEN hamartoma tumor syndrome
KW  - Adolescent
KW  - Hamartoma Syndrome, Multiple
KW  - Humans
KW  - PTEN Phosphohydrolase
KW  - Exome Sequencing
TI  - Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
TY  - research article
VL  - 17
ER  -