Citations for
1AMCD3, AMCD5, MDWS, PIEZO2
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.
Am J Hum Genet 94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. 2014
2MDWS
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.
Fryns JP, Willekens D, Van Schoubroeck D, Moerman P.
Clin Genet 54(1):86-9. 1998