| 1 | EIOS, SAPS, ST3GAL5 |
| A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. | |
| Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. | |
| Hum Mol Genet 23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. 2014 | |