An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ferdinandusse, Sacha S; McWalter, Kirsty K; Te Brinke, Heleen H; IJlst, Lodewijk L; Mooijer, Petra M PM; Ruiter, Jos P N JPN; van Lint, Alida E M AEM; Pras-Raves, Mia M; Wever, Eric E; Millan, Francisca F; Guillen Sacoto, Maria J MJ; Begtrup, Amber A; Tarnopolsky, Mark M; Brady, Lauren L; Ladda, Roger L RL; Sell, Susan L SL; Nowak, Catherine B CB; Douglas, Jessica J; Tian, Cuixia C; Ulm, Elizabeth E; Perlman, Seth S; Drack, Arlene V AV; Chong, Karen K; Martin, Nicole N; Brault, Jennifer J; Brokamp, Elly E; Toro, Camilo C; Gahl, William A WA; Macnamara, Ellen F EF; Wolfe, Lynne L; , ; Waisfisz, Quinten Q; Zwijnenburg, Petra J G PJG; Ziegler, Alban A; Barth, Magalie M; Smith, Rosemarie R; Ellingwood, Sara S; Gaebler-Spira, Deborah D; Bakhtiari, Somayeh S; Kruer, Michael C MC; van Kampen, Antoine H C AHC; Wanders, Ronald J A RJA; Waterham, Hans R HR; Cassiman, David D; Vaz, Frédéric M FM
Publication Date: 2021-04
Variant appearance in text: PC: 2315C>T; Thr772Ile