ANNALS OF HUMAN GENETICS, vol.84, no.4, pp.324-330, 2020 (Journal Indexed in SCI)
Article / Article
Title of Journal :
ANNALS OF HUMAN GENETICS
Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, macrocephaly, mutation spectrum, PTEN, COWDEN-SYNDROME, GERMLINE MUTATIONS, GENE, DISEASE, BREAST, SPECTRUM
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.