1. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Issue 1 (December 2015) Authors: Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali; Huether, Robert; Powis, Zoe; Lu, Hsiao-Mei; Baxter, Ruth; McPherson, Elizabeth; Tang, Sha Journal: BMC medical genetics Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗