COL1A1突变致Van der Hoeve综合征家系的遗传和表型分析并文献复习
Genetic and Phenotypic analysis of a Family with Van der Hoeve Syndrome Caused by COL1A1 Gene Mutation and Literature Review
聂泽群;贺楚峰;吴宏;凌捷;付秦辉;庞博;张帅;陈永嘉;梅凌云
1:中南大学湘雅医院耳鼻咽喉头颈外科耳鼻咽喉重大疾病研究所湖南省重点实验室国家老年疾病临床医学研究中心(湘雅医院)
2:中南大学基础医学院医学机能实验中心
摘要关键词基金项目(Foundation):作者参考文献1 袁永一，戴朴.Van der Hoeve综合征[J].临床耳鼻咽喉头颈外科杂志，2018,32(16):1222-1225.
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