Familial coarctation of the aorta in three generations

被引：0

作者：

Stoll, C ^{[1
]}

Alembik, Y ^{[1
]}

Dott, B ^{[1
]}

机构：

[1] Hop Hautepierre, Serv Genet Med, F-67098 Strasbourg, France

来源：

ANNALES DE GENETIQUE | 1999年 / 42卷 / 03期

关键词：

coarctation of aorta; congenital heart disease; autosomal dominant inheritance;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Four members in three generations of a family were affected by a coarctation of the aorta (CoA) which was mild or severe, either isolated or in association with other cardiac defects, This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with incomplete penetrance and variable expressivity rather than polygenic inheritance.

引用

页码：174 / 176

页数：3

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