Journal article

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Wendy A Gold, Nara Sobreira, Elsa Wiame, Alexandre Marbaix, Emile Van Schaftingen, Patricia Franzka, Lisa G Riley, Lisa Worgan, Christian A Huebner, John Christodoulou, Lesley C Ades

American Journal of Medical Genetics Part A | WILEY | Published : 2017