PedAM
Pediatric Disease Annotations & Medicines
| Disease | c syndrome |
| Phenotype | C0043207|wolfram syndrome |
| Sentences | 1 |
| PubMedID- 19934005 | These include two human pleiotropic syndromes associated with early-onset diabetes, wolfram syndrome (caused by mutations in wfs1) (26,27) and wolcott-rallison syndrome (caused by mutations in eif2ak3/perk) (28,29), and neonatal diabetes caused by mutations in the proinsulin gene itself (30–32), which prevent proper folding and/or disulfide bonding of mature insulin. |
Page: 1