Article

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 - 1 Apr 2021

Ferdinandusse Sacha, McWalter Kirsty, Te Brinke Heleen, IJlst Lodewijk, Mooijer Petra M, Ruiter Jos P N, van Lint Alida E M, Pras-Raves Mia, Wever Eric, Millan Francisca, Guillen Sacoto Maria J, Begtrup Amber, Tarnopolsky Mark, Brady Lauren, Ladda Roger L, Sell Susan L, Nowak Catherine B, Douglas Jessica, Tian Cuixia, Ulm Elizabeth, Perlman Seth, Drack Arlene V, Chong Karen, Martin Nicole, Brault Jennifer, Brokamp Elly, Toro Camilo, Gahl William A, Macnamara Ellen F, Wolfe Lynne, Waisfisz Quinten, Zwijnenburg Petra J G, Ziegler Alban, Barth Magalie, Smith Rosemarie, Ellingwood Sara, Gaebler-Spira Deborah, Bakhtiari Somayeh, Kruer Michael C, van Kampen Antoine H C, Wanders Ronald J A, Waterham Hans R, Cassiman David, Vaz Frédéric M