摘要小耳畸形的发生发展是多因素、多机制共同作用的结果,可能与遗传因素、生活环境及方式等因素密切相关,而遗传学则是其病因学的核心.该文从表观遗传学、基因多态性、染色体改变、基因水平改变、信号通路等方面,对小耳畸形遗传学方面的研究进行了综述,对其病因进行了探讨和总结.
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abstractsThe occurrence and development of congenital microtia are the result of multiple factors and mechanisms,including genetic factors,living environment and lifestyle,etc.However,genetics is the key to understand the etiology of congenital microtia.In this paper,the genetics of microtia was reviewed in the aspects of epigenetics,gene polymorphism,chromosomal change,genetic change and signal pathway.The etiology of microtia was discussed and summarized.
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