Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation

被引:22
作者
Collod-Béroud, G [1 ]
Lackmy-Port-Lys, M [1 ]
Jondeau, G [1 ]
Mathieu, M [1 ]
Maingourd, Y [1 ]
Coulon, M [1 ]
Guillotel, M [1 ]
Junien, C [1 ]
Boileau, C [1 ]
机构
[1] Hop Necker Enfants Malad, INSERM U383, Clin Maurice Lamy, F-75743 Paris 15, France
关键词
D O I
10.1086/302545
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:917 / 921
页数:5
相关论文
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