Enamel-renal-gingival syndrome and FAM20A mutations
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A...
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Main Authors: | Piranit Nik Kantaputra, Massupa Kaewgahya, Udomrat Khemaleelakul, Prapai Dejkhamron, Suchitra Sutthimethakorn, Visith Thongboonkerd, Anak Iamaroon |
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格式: | 雜誌 |
出版: |
2018
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在線閱讀: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84890777928&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/53276 |
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