Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

by Sérgio B. Sousa, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida, Glenn Anderson, James Docker, Mina Ryten, Joaquim Sa, Jorge M. Saraiva, Angela Barnicoat, Richard Scott, Alistair Calder, Duangrurdee Wattanasirichaigoon, Krystyna Chrzanowska, Martina Simandlová, Lionel Van Maldergem, Philip Stanier, Philip L. Beales, Jean E. Vance, Gudrun E. Moore
Published 2018