Article
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
Annals of human genetics - 1 Jul 2020
Isik Esra, Simsir Ozguc Semih, Solmaz Asli Ece, Onay Huseyin, Atik Tahir, Aykut Ayca, Durmaz Asude, Cogulu Ozgur, Ozkinay Ferda
Abstract excerpt
INTRODUCTION: PTEN gene mutations are responsible for the PTEN hamartoma tumor syndrome (PHTS). In this study, clinical and molecular findings of patients carrying PTEN mutations are presented. Our aim is to contribute to genotype-phenotype correlation and define the most common findings of the syndrome in pediatric patients. METHODS AND MATERIALS: Ten molecularly confirmed PHTS patients from seven families were...
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