| 1 | JBTS10, LCA5, OFD1, SGBS2 |
| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. | |
| Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. | |
| Am J Hum Genet 85(4):465-81. 2009 | |
| 2 | OFD1, SGBS2 |
| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. | |
| Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. | |
| Hum Genet 120(2):171-8. Epub 2006 Jun 17. 2006 | |
| 3 | SGBS2 |
| Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of simpson-golabi-behmel syndrome. | |
| Brzustowicz LM, et al. | |
| Am J Hum Genet 65(3):779-83 1999 | |