Boccuto et al., 2014 - A Mutation in a Ganglioside Biosynthetic Enzyme, ST3GAL5, Results in Salt & Pepper Syndrome, a Neurocutaneous Disorder with Altered Glycolipid and Glycoprotein Glycosylation. Human molecular genetics   23(2):418-33 Full text @ Hum. Mol. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
salt and pepper syndrome