Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Acta Neuropathologica Communications
McKie, Arthur B AB; Alsaedi, Atif A; Vogt, Julie J; Stuurman, Kyra E KE; Weiss, Marjan M MM; Shakeel, Hassan H; Tee, Louise L; Morgan, Neil V NV; Nikkels, Peter G J PG; van Haaften, Gijs G; Park, Soo-Mi SM; van der Smagt, Jasper J JJ; Bugiani, Marianna M; Maher, Eamonn R ER