Clinical and molecular aspects of PTEN mutations in 10 pediatric patients


Isik E., Simsir O., Solmaz A. , Onay H. , Atik T. , Aykut A. , ...More

ANNALS OF HUMAN GENETICS, vol.84, no.4, pp.324-330, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 84 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1111/ahg.12380
  • Title of Journal : ANNALS OF HUMAN GENETICS
  • Page Numbers: pp.324-330
  • Keywords: Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, macrocephaly, mutation spectrum, PTEN, COWDEN-SYNDROME, GERMLINE MUTATIONS, GENE, DISEASE, BREAST, SPECTRUM

Abstract

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.