Browsing by Author "Kim, Youn Ju"

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Mutations in RELT cause autosomal recessive amelogenesis imperfecta

Kim, Jung-Wook; Zhang, Hong; Seymen, Figen; Koruyucu, Mine; Hu, Yuanyuan; Kang, Jenny; Kim, Youn Ju; Ikeda, Atsushi; Kasımoğlu, Yelda; Bayram, Merve; Zhang, Chuhua; Kawasaki, Kazuhiko; Bartlett, John D.; Saunders, Thomas L.; Simmer, James P.; Hu, Jan C-C. (Wiley, 2019)

Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families ...