De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
Rodger, C; Flex, E; Allison, RJ; Sanchis-Juan, A; Hasenahuer, MA; Cecchetti, S; French, CE; Edgar, JR; Carpentieri, G; Ciolfi, A; Pantaleoni, F; Bruselles, A; Onesimo, R; Zampino, G; Marcon, F; Siniscalchi, E; Lees, M; Krishnakumar, D; McCann, E; Yosifova, D; Jarvis, J; Kruer, MC; Marks, W; Campbell, J; Allen, LE; Gustincich, S; Raymond, FL; Tartaglia, M; Reid, E
Reid, E (corresponding author), Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England.; Reid, E (corresponding author), Univ Cambridge, Dept Med Genet, Cambridge CB2 0QQ, England.; Tartaglia, M (corresponding author), IRCCS, Genet & Rare Dis Res Div, Osped Pediat Bambino Gesu, I-00146 Rome, Italy.
AMERICAN JOURNAL OF HUMAN GENETICS, 2020; 107 (6): 1129
