Clinical and molecular aspects of PTEN mutations in 10 pediatric patients


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

ANNALS OF HUMAN GENETICS, cilt.84, ss.324-330, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 84
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1111/ahg.12380
  • Dergi Adı: ANNALS OF HUMAN GENETICS
  • Sayfa Sayıları: ss.324-330

Özet

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.