Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia

被引：25

作者：

Boule, Stephane ^{[2
]}

Fressart, Veronique

Laux, Daniela ^{[3
]}

Mallet, Audrey

Simon, Francoise

de Groote, Pascal ^{[2
]}

Bonnet, Damien ^{[3
]}

Klug, Didier ^{[2
]}

Charron, Philippe ^{[1
]}

机构：

[1] UPMC Univ Paris 6, Hop La Pitie Salpetriere, AP HP,INSERM UMRS 956, Ctr Reference Malad Cardiaques Hereditaires, F-75013 Paris, France

[2] Hop Cardiol, Dept Cardiol, F-59037 Lille, France

[3] Univ Paris 05, Hop Necker Enfants Malad, Dept Pediat Cardiol, Paris, France

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2012年 / 161卷 / 01期

关键词：

Naxos disease; Desmoplakin gene; Leukonychia; Oligodentia; Arrhythmogenic right ventricular cardiomyopathy; RIGHT-VENTRICULAR CARDIOMYOPATHY/DYSPLASIA;

D O I：

10.1016/j.ijcard.2012.06.068

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：50 / 52

页数：3

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