Article
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
American journal of human genetics - 3 Nov 2016
Seymen Figen, Kim Youn Jung, Lee Ye Ji, Kang Jenny, Kim Tak-Heun, Choi Hwajung, Koruyucu Mine, Kasimoglu Yelda, Tuna Elif Bahar, Gencay Koray, Shin Teo Jeon, Hyun Hong-Keun, Kim Young-Jae, Lee Sang-Hoon, Lee Zang Hee, Zhang Hong, Hu Jan C-C, Simmer James P, Cho Eui-Sic, Kim Jung-Wook
Abstract excerpt
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1,...
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