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

Keyphrases

• Genetic Studies 100%
• Spanish-speaking Patients 100%
• PTEN Hamartoma Tumor Syndrome 100%
• Phenotypic Characteristics 28%
• Whole Exome Sequencing 28%
• Population-based Study 14%
• Obesity 14%
• Clinical Characteristics 14%
• Clinical Data 14%
• Renal Cancer 14%
• Molecular Characterization 14%
• Clinical Aspects 14%
• Next-generation Sequencing 14%
• Exon 1 14%
• Overexpression 14%
• Molecular Aspects 14%
• Spanish Population 14%
• Genetic Characteristics 14%
• Specific Questionnaire 14%
• Challenging Tasks 14%
• Gastrointestinal Polyposis 14%
• NEDD4 14%
• Mucocutaneous Lesions 14%
• Germline Variants 14%
• Macrocephaly 14%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exome Sequencing 100%
• Genetic Trait 50%
• Next Generation Sequencing 50%
• Exon 50%
• Population Research 50%
• Germline 50%
• Germ Cell 50%
• NEDD4 50%