| 1 | ATSG1, ATSG3, FLNB, LRS1, SCTS |
| Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. | |
| Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. | |
| J Mol Biol 390(5):1030-47. Epub 2009 Jun 6.PMID: 19505475 2009 | |
| 2 | FLNB, ATSG1, ATSG3 |
| Mutations in two regions of FLNB result in atelosteogenesis I and III. | |
| Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. | |
| Hum Mutat 27(7):705-10. 2006 | |
| 3 | FLNB, SCTS, LRS1, ATSG1, ATSG3 |
| Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. | |
| Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. | |
| Nat Genet 36(4):405-10. Epub 2004 Feb 29. 2004 | |