Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Laura Pena-CousoMaría ErcibengoaFátima MercadilloDavid Gómez-SánchezLucía Inglada-PérezMaría SantosJavier LanillosDavid Gutiérrez-AbadAlmudena HernándezPablo CarbonellRocío LetónMercedes RobledoCristina Rodríguez-AntonaJosé PereaMiguel Uriostenull nullPublished in: Orphanet journal of rare diseases (2022)
This study expands previously reported findings in other PHTS population studies and makes new contributions regarding clinical and molecular aspects of PHTS, which are useful for translation to the clinic and for new research lines.