De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

द्वारा Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
में प्रकाशित Eur J Hum Genet (2016)