SDHD公司
遗传学
突变
基因
人口
生物
桥小脑角
癌症研究
医学
种系突变
环境卫生
放射科
磁共振成像
作者
Larry D. Hartzell,Kent D. McKelvey,Rudy L. Van Hemert,John L. Dornhoffer
出处
期刊:PubMed
日期:2008-01-01
卷期号:14 (2): 97-100
被引量:7
摘要
Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally. We present the first reported case of a patient with a CPA tumor and a maternally inherited SDHD gene mutation.
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