Journal Article
Ehmke, N.; Parvaneh, N.; Krawitz, P.; Ashrafi, M. R.; Karimi, P.; Mehdizadeh, M.; Kruger, U.; Hecht, J.; Mundlos, S.; Robinson, P. N.: First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics Part A
164A (12), pp. 3170 - 3175 (2014)