CEDNIK syndrome results from loss-of-function mutations in SNAP29.

D Fuchs-Telem, H Stewart, D Rapaport, J Nousbeck, A Gat, M Gini, Y Lugassy, S Emmert, Katja Eckl, H C Hennies, O Sarig, D Goldsher, B Meilik, A Ishida-Yamamoto, M Horowitz, E Sprecher

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Medicine & Life Sciences