| 1 | ATSG1, ATSG3, FLNB, LRS1, SCTS
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| 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.
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| Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ.
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| J Mol Biol 390(5):1030-47. Epub 2009 Jun 6.PMID: 19505475 2009
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| 2 | FLNB, ATSG1, ATSG3
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| Mutations in two regions of FLNB result in atelosteogenesis I and III.
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| 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.
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| Hum Mutat 27(7):705-10. 2006
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| 3 | ATSG1,FLNB
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| Mutations in FLNB cause boomerang dysplasia.
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| Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP.
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| J Med Genet 42(7):e43. 2005
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| 4 | FLNB, SCTS, LRS1, ATSG1, ATSG3
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| Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
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| 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.
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| Nat Genet 36(4):405-10. Epub 2004 Feb 29. 2004
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| 5 | ATSG1
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| Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.
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| Greally MT, Jewett T, Smith WL Jr, Penick GD, Williamson RA.
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| Am J Med Genet 47(7):1086-91. 1993
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| 6 | ATSG1
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| Atelosteogenesis I and boomerang dysplasia: a question of nosology.
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| Hunter AG, Carpenter BF.
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| Clin Genet 39(6):471-80. Review. 1991
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