Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.

Esra IsikOzguc Semih SimsirAsli Ece SolmazHuseyin OnayTahir AtikAyca AykutAsude DurmazOzgur CoguluFerda Ozkinay

Published in: Annals of human genetics (2020)

Screening of PTEN mutations in patients with macrocephaly is recommended due to an increased risk of cancer. Further cases are needed to make a phenotype-genotype correlation in PHTS.

Keyphrases

pi k akt
cell proliferation
papillary thyroid
squamous cell
signaling pathway
single molecule