Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene Mutation

被引：0

作者：

Diaz de Bustamante, Aranzazu ^{[1
]}

Ruiz-Casares, Eva ^{[2
]}

Teresa Darnaude, M. ^{[1
]}

Perucho, Teresa ^{[2
]}

Martinez-Quesada, Gabriel ^{[3
]}

机构：

[1] Hosp Univ Mostoles, Unidad Genet, Madrid, Spain

[2] Genyca Innova, Genet Lab, Madrid, Spain

[3] Hosp Univ Mostoles, Med Interna Serv, Madrid, Spain

来源：

REVISTA ESPANOLA DE CARDIOLOGIA | 2012年 / 65卷 / 04期

关键词：

D O I：

10.1016/j.rec.2011.05.031

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：380 / 381

页数：3

共 5 条

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[3]

Lebreiro A, 2011, REV ESP CARDIOL, V64, P151, DOI 10.1016/j.recesp.2010.02.001

[4] The revised Ghent nosology for the Marfan syndrome [J].

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Braverman, Alan C. ;

Callewaert, Bert L. ;

De Backer, Julie ;

Devereux, Richard B. ;

Hilhorst-Hofstee, Yvonne ;

Jondeau, Guillaume ;

Faivre, Laurence ;

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De Paepe, Anne M. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) :476-485

[5] Compound-heterozygous Marfan syndrome [J].

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Hamel, B. C. ;

Hilhorst-Hofstee, Y. ;

Mulder, B. J. M. ;

Timmermans, J. ;

Pals, G. ;

Cobben, J. M. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (01) :1-5

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