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

Sylvie Langlois, Maja Tarailo-Graovac, Bryan Sayson, Britt Drögemöller, Anne Swenerton, Colin Jd Ross, Wyeth W. Wasserman, Clara Dm van Karnebeek

January 2016

Type

Journal article

Publication

European journal of human genetics: EJHG