先天性外中耳畸形(14)——遗传学和表观遗传学研究进展

张天宇;陈鑫;马竞;

1:复旦大学附属眼耳鼻喉科医院眼耳鼻整形外科

2:复旦大学附属眼耳鼻喉科医院耳鼻喉科研究院

摘要
<正>1.2.3鳃-耳-肾谱系疾病(BORSD) BORSD(OMIM 113 650)是一类由于胚胎发育时期基因突变导致鳃裂、耳及肾脏发育异常的单基因遗传病,发病率约1/40 000,30%~60%的BORSD患者伴有外中耳畸形([1]),呈常染色体显性遗传。具有高度的临床表型和基因型异质性,合并泌尿系统异常者称为鳃-耳-肾综合征(branchio-oto-renal syndrome,BORS),无泌尿系统异常则为鳃-耳综合征(bran-chio-oto syndrome,BOS)。
关键词
基金项目(Foundation):
国家自然科学基金(81771014、81800920)
作者
张天宇;陈鑫;马竞;
参考文献

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张天宇陈鑫马竞