Clinical and molecular aspects of PTEN mutations in 10 pediatric patients
Articles > Article · 2020
Authors: Esra IŞIK, Os Simsir, Aslı ECE SOLMAZ, HÜSEYİN ONAY, Tahir ATİK, Ayça AYKUT, Asude DURMAZ, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
ANNALS OF HUMAN GENETICS, Journal Indexed in SCI Expanded, International, 2020, vol 84, pp 324-330
DOI: 10.1111/ahg.12380
Summary
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.