| 1 | FZD2, NXN, RBNS4, RBNS5 |
| WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. | |
| White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon 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-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. | |
| Am J Hum Genet 102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. 2018 | |
| 2 | FZD2, RBNS4 |
| Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. | |
| Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A. | |
| Am J Med Genet A m J Med Genet A. 2018 Jan 31. doi: 10.1002/ajmg.a.38623. [Epub ahead of print] 2018 | |
| 3 | FZD2, RBNS4 |
| A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. | |
| Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW. | |
| Hum Mol Genet 24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10. 2015 | |