https://scholars.lib.ntu.edu.tw/handle/123456789/630767
標題: | Phenotypic variability in LAMA3-associated amelogenesis imperfecta | 作者: | SHIH-KAI WANG Zhang, Hong YIN-LIN WANG Seymen, Figen Koruyucu, Mine Simmer, James P Hu, Jan C-C |
關鍵字: | MMP20; computed tomography; dental enamel; junctional epidermolysis bullosa; laminin; mutation | 公開日期: | 3-一月-2023 | 出版社: | WILEY | 來源出版物: | Oral diseases | 摘要: | Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/630767 | ISSN: | 1354-523X | DOI: | 10.1111/odi.14425 |
顯示於: | 牙醫學系 |
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