1 | GAMOS1, WDR73 |
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. | |
Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M. | |
BMC Ophthalmol 18(1):147. doi: 10.1186/s12886-018-0820-4. Review. 2018 | |
2 | GAMOS1, WDR73 |
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome. | |
Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C. | |
Am J Hum Genet 95(6):637-48. doi: 10.1016/j.ajhg.2014.10.011. Epub 2014 Nov 13. 2014 | |