| 1 | HLD23, RNF220 |
| Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness | |
| Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. | |
| Brain Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. 2021 | |