Clinical and molecular aspects of PTEN mutations in 10 pediatric patients,Annals of Human Genetics

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Clinical and molecular aspects of PTEN mutations in 10 pediatric patients
Annals of Human Genetics ( IF 1.9 ) Pub Date : 2020-03-12 , DOI: 10.1111/ahg.12380
Esra Isik ₁ , Ozguc Semih Simsir ₁ , Asli Ece Solmaz ₂ , Huseyin Onay ₂ , Tahir Atik ₁ , Ayca Aykut ₂ , Asude Durmaz ₂ , Ozgur Cogulu _{1,

2} , Ferda Ozkinay _{1,

2}

Affiliation

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.

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