| 1 | ABCD1, BCAP31, DDCH |
| Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. | |
| Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. | |
| Am J Hum Genet 93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023. 2013 | |
| 2 | ABCD1, BCAP31, DDCH |
| Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. | |
| Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. | |
| Am J Hum Genet 70(6):1520-31. Epub 2002 Apr 29. 2002 | |