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Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC. Kim JW, et al. Among authors: kim yj. Clin Genet. 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21. Clin Genet. 2019. PMID: 30506946 Free PMC article.
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW. Seymen F, et al. Among authors: kim yj, kim th, kim jw. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. doi: 10.1016/j.ajhg.2016.09.018. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843125 Free PMC article.
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.
Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW. Kim YJ, et al. Among authors: kim jw. Arch Oral Biol. 2017 Apr;76:61-65. doi: 10.1016/j.archoralbio.2017.01.004. Epub 2017 Jan 12. Arch Oral Biol. 2017. PMID: 28130977
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.
Kim YJ, Seymen F, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Tuna EB, Lee ZH, Shin TJ, Hyun HK, Kim YJ, Lee SH, Hu J, Simmer J, Kim JW. Kim YJ, et al. Among authors: kim jw. Clin Oral Investig. 2019 Mar;23(3):1481-1487. doi: 10.1007/s00784-018-2577-9. Epub 2018 Aug 17. Clin Oral Investig. 2019. PMID: 30120606 Free PMC article.
Novel frameshift mutations in DSPP cause dentin dysplasia type II.
Lee JW, Hong J, Seymen F, Kim YJ, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Song JS, Shin TJ, Hyun HK, Kim YJ, Lee JC, Park JC, Hu J, Simmer J, Kim JW. Lee JW, et al. Among authors: kim yj, kim jw. Oral Dis. 2019 Nov;25(8):2044-2046. doi: 10.1111/odi.13182. Epub 2019 Sep 11. Oral Dis. 2019. PMID: 31454439 Free PMC article. No abstract available.
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