| 1 | FLNB, LRS1
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| Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
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| Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK.
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| Cold Spring Harb Mol Case Stud. Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. 2019
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| 2 | FLNB, LRS1
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| Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.
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| Xu Q, Wu N, Cui L, Lin M, Thirumal Kumar D, George Priya Doss C, Wu Z, Shen J, Song X, Qiu G.
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| Am J Transl Res. May 15;10(5):1400-1412. 2018
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| 3 | 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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| 4 | LRS1, FLNB
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| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
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| Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.
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| J Med Genet 44(2):89-98. Epub 2006 Jun 26. 2007
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| 5 | NPS1, PTLAH, DSBQS, LRS1, EDM2, EDM4
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| Human syndromes with congenital patellar anomalies and the underlying gene defects.
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| Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.
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| Clin Genet 68(4):302-19. 2005
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| 6 | 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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| 7 | COL7A1, LRS1
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| Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus.
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| Vujic M, Hallstensson K, Wahlstrom J, Lundberg A, Langmaack C, Martinson T.
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| Am J Hum Genet 57 : 1104-1113. 1995
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