Article
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
American journal of medical genetics. Part A - 1 Jun 2022
Gökpınar İli Ezgi, Taşdelen Elifcan, Durmaz Ceren Damla, Altıner Şule, Tuncalı Timur, Martinez-Glez Victor, Karabulut Halil Gürhan, Vural Seçil, Ceylaner Serdar, Acar Mustafa Oğuz, Ilgın Ruhi Hatice
Abstract excerpt
Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we describe five patients with PROS. We identified by high-throughput sequencing four different somatic PIK3CA pathogenic variants in five individuals. The Glu726Lys variant,...
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