| 1 | GPX4, SMDS |
| Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. | |
| Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. | |
| J Med Genet 51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4. 2014 | |