Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta

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 autosom...

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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097978/
https://ncbi.nlm.nih.gov/pubmed/27843125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.09.018
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