| 1 | FLNB, SCTS
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| Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
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| Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.
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| Am J Hum Genet. Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. 2018
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| 2 | 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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| 3 | SCTS, FLNB
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| Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
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| Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S.
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| Am J Med Genet A 146A(12):1593-7. 2008
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| 4 | FLNB, SCTS
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| Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
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| Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D.
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| Hum Mol Genet 17(5):631-41. Epub 2007 Jul 17. 2008
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| 5 | FLNB, SCTS
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| Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
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| Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M.
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| Am J Med Genet A 146A(9):1230-3. No abstract available. 2008
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| 6 | SCTS
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| A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
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| Steiner C, Ehtesham N, Taylor KD, Sebald E, Cantor R, King LM, Guo X, Hang T, Hu MS, Cui JR, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn DH, Krakow D.
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| J Med Genet 41(4):266-9. 2004
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| 7 | 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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| 8 | SCTS
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| Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
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| Coelho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N.
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| Am J Med Genet 77(1):12-5. Review. 1998
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| 9 | SCTS
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| Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).
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| Langer LO Jr, Gorlin RJ, Donnai D, Hamel BC, Clericuzio C.
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| Am J Med Genet 51(1):1-8. Review. 1994
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