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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: weaver dd. 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.
Neural tube defects and omphalocele in trisomy 18.
Moore CA, Harmon JP, Padilla LM, Castro VB, Weaver DD. Moore CA, et al. Among authors: weaver dd. Clin Genet. 1988 Aug;34(2):98-103. doi: 10.1111/j.1399-0004.1988.tb02843.x. Clin Genet. 1988. PMID: 3191615
Mild autosomal dominant hypophosphatasia: in utero presentation in two families.
Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lague P, Coburn SP, Weaver DD, Whyte MP. Moore CA, et al. Among authors: weaver dd. Am J Med Genet. 1999 Oct 29;86(5):410-5. doi: 10.1002/(sici)1096-8628(19991029)86:5<410::aid-ajmg3>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10508980
Mutations in EZH2 cause Weaver syndrome.
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Gibson WT, et al. Among authors: weaver dd. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177091 Free PMC article.
167 results