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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Du R, et al. Among authors: aktoren o. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. Hum Genet. 2018. PMID: 30046887 Free PMC article.
Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y. Kantaputra PN, et al. Among authors: aktoren o. Am J Med Genet A. 2014 Aug;164A(8):2124-8. doi: 10.1002/ajmg.a.36579. Epub 2014 Apr 22. Am J Med Genet A. 2014. PMID: 24756937 No abstract available.
29 results