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 | |