国际口腔医学杂志 ›› 2017, Vol. 44 ›› Issue (2): 244-248.doi: 10.7518/gjkq.2017.02.026
• 综述 • 上一篇
李思洁1, 肖雪2, 赵玮1
Li Sijie, Xiao Xue, Zhao Wei
摘要: 外胚叶发生不全(ED)是一种遗传性疾病,主要表现为牙齿、毛发、指甲和汗腺等外胚叶组织发生不全,其发病的内因主要是单基因突变。目前已经发现逾200种不同类型的基因突变,来自不同的染色体,或同一染色体上编码不同蛋白质的基因。其临床表现多种多样,且不同基因突变个体的临床表现往往不同;即使是同一基因不同类型的突变,其临床表现都可能大相径庭。本文就ED的发病机制及基因治疗进展作一综述,以利于加深临床医生对该疾病的认识并为进一步基因治疗研究提供帮助。
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