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Don't use the term "amyoplasia" loosely.
Hall JG. Hall JG. Am J Med Genet. 2002 Aug 15;111(3):344. doi: 10.1002/ajmg.10571. Am J Med Genet. 2002. PMID: 12210336 No abstract available.
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: hall jg. 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.
Achondroplasia: unexpected familial recurrence.
Reiser CA, Pauli RM, Hall JG. Reiser CA, et al. Among authors: hall jg. Am J Med Genet. 1984 Oct;19(2):245-50. doi: 10.1002/ajmg.1320190206. Am J Med Genet. 1984. PMID: 6507475
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