Considerations on Diagnosis and Surveillance Measures of PTEN Hamartoma Tumor Syndrome: Clinical and Genetic Study in a Series of Spanish Patients.

Pena-Couso Laura,Ercibengoa María,Mercadillo Fátima, i+1 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC),Inglada-Pérez Lucía,Santos María,Lanillos Javier, Gutiérrez-Abad David,Hernández Almudena,Carbonell Pablo,Letón Rocío, Rare Diseases Networking Biomedical Research Centre (CIBERER), Health Research Institute-Fundación Jiménez Díaz University Hospital,Urioste Miguel

Orphanet Journal of Rare Diseases（2022）

Cited 3|Views32

Key words

PTEN hamartoma tumor syndrome,Cowden syndrome,PTEN gene,NGS,Exome

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