摘要
小耳畸形是一种外耳和中耳发育异常的先天性畸形,其发生原因包括环境因素和遗传因素。小耳畸形的遗传学因素是病因研究的核心。目前在综合征型小耳畸形遗传病因方面已经取得了一定研究成果。近年来随着研究技术如高通量测序技术的进步,非综合征型小耳畸形的胚胎学和病因学研究也获得了很大进展。
Microtia encompasses a spectrum of congenital anomalies of the external and middle ear. The pathogenesis ofmicro- tiais perplexing, including environmental contribution and genetic factors. Research on genetic mutation site is of great importance to illuminate pathogenesis of microtia. Great progress has been achieved in genetics of syndromic microtia. Recently, with the de- velopmentof next generation sequencing, the research of nonsyndromic microtia has made great achievements in embryology and genetics.
出处
《中国医学文摘（耳鼻咽喉科学）》
2017年第1期24-28,8,共6页
Chinese Medical Digest(Otorhinolaryngology)
关键词
小耳畸形
遗传学
胚胎发育
Microtia
Genetic Contribution
Embryology
