ea0066p9 | Bone | BSPED2019
Kwong Ruth Ming Wai
, El-Khairi Ranna
, Windsor Rachael
, Gevers Evelien
Introduction: PTEN-harmatoma-tumor syndrome is an umbrella term that describes a group of genetic disorders linked to germline mutations of PTEN (Phosphatase and tensin homolog), a tumor suppressor gene that inhibits the PI3/Akt signalling pathway thereby inhibiting proliferation, cell survival and angiogenesis. PTEN-harmatoma-tumor syndrome encompasses Cowdens Syndrome, BannayanRileyRuvalcaba syndrome, and autism spectrum disorder (ASD) associated with macro...