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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. McMillin MJ, et al. Among authors: hecht jt. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Among authors: hecht jt. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
Achondroplasia.
Horton WA, Hall JG, Hecht JT. Horton WA, et al. Among authors: hecht jt. Lancet. 2007 Jul 14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3. Lancet. 2007. PMID: 17630040 Review.
Mosaicism in pseudoachondroplasia.
Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT. Ferguson HL, et al. Among authors: hecht jt. Am J Med Genet. 1997 Jun 13;70(3):287-91. Am J Med Genet. 1997. PMID: 9188668
The Nager syndrome.
Hecht JT, Immken LL, Harris LF, Malini S, Scott CI Jr. Hecht JT, et al. Am J Med Genet. 1987 Aug;27(4):965-9. doi: 10.1002/ajmg.1320270426. Am J Med Genet. 1987. PMID: 3321996
272 results