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References

1. Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T,Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):623-30.doi: 10.1016/j.ajhg.2015.02.010.
2. Klingensmith J, Nusse R, Perrimon N. The Drosophila segment polarity genedishevelled encodes a novel protein required for response to the wingless signal.Genes Dev. 1994 Jan;8(1):118-30.
3. Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, Silani V, Giardino L,Ratti A, Penso D, Calzà L, Palka G, Scarlato G, Novelli G, Dallapiccola B. cDNAcharacterization and chromosomal mapping of two human homologues of theDrosophila dishevelled polarity gene. Hum Mol Genet. 1996 Jul;5(7):953-8.
4. White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S,Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT,Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM. DVL1 frameshiftmutations clustering in the penultimate exon cause autosomal-dominant Robinowsyndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi:10.1016/j.ajhg.2015.02.015.
5. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, vanBon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M,Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S,Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-HopkinsCenter for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of RobinowSyndrome. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi:10.1016/j.ajhg.2017.10.002.
6. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center forMendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon MediateAutosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-561.doi: 10.1016/j.ajhg.2016.01.005.