扩大与桥粒斑蛋白显性突变相关的表型：与白甲和少牙症相关的卡瓦哈尔/纳克索斯综合征。 - Suppr

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

作者信息

Boulé Stéphane, Fressart Veronique, Laux Daniela, Mallet Audrey, Simon Francoise, de Groote Pascal, Bonnet Damien, Klug Didier, Charron Philippe

出版信息

Int J Cardiol. 2012 Nov 1;161(1):50-2. doi: 10.1016/j.ijcard.2012.06.068. Epub 2012 Jul 12.

DOI:10.1016/j.ijcard.2012.06.068

PMID:22795705

Abstract

摘要

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Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.扩大与桥粒斑蛋白显性突变相关的表型：与白甲和少牙症相关的卡瓦哈尔/纳克索斯综合征。

Int J Cardiol. 2012 Nov 1;161(1):50-2. doi: 10.1016/j.ijcard.2012.06.068. Epub 2012 Jul 12.

A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.一种新的低/少牙畸形综合征：继发于桥粒芯糖蛋白基因突变的 Carvajal/Naxos 综合征。

J Dent Res. 2011 Jan;90(1):58-64. doi: 10.1177/0022034510383984. Epub 2010 Oct 12.

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.一个新的桥粒芯蛋白基因突变，导致 Naxos 和 Carvajal 疾病，同时伴有少牙症和指甲脆弱。

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Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome.致心律失常性右室发育不良、皮肤表现与桥粒斑蛋白突变：卡瓦哈尔综合征。

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A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl.一名8岁女孩患卡瓦哈尔综合征合并颈部神经母细胞瘤的病例。

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Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.一名西班牙患者的病例报告，该患者患有致心律失常性右心室心肌病和掌跖角化病，无桥粒斑蛋白和桥粒芯蛋白基因修饰。

Int J Cardiol. 2007 May 31;118(2):275-7. doi: 10.1016/j.ijcard.2006.06.065. Epub 2006 Oct 12.

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.两名患有罕见型扩张型心肌病（卡瓦哈尔综合征）的女性同胞中桥粒斑珠蛋白基因的一种新突变

Anatol J Cardiol. 2017 Dec;18(6):435-436. doi: 10.14744/AnatolJCardiol.2017.7867.

Evidence for genetic heterogeneity in Carvajal syndrome.Carvajal 综合征的遗传异质性证据。

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Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.致心律失常性右室心肌病患者出现新型桥粒芯蛋白基因突变。

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Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.在一个患有常染色体显性遗传性条纹状掌跖角化病和羊毛状毛发的家族中，因桥粒斑蛋白发生新的插入突变导致心肌病早亡。

J Invest Dermatol. 2006 Jul;126(7):1651-4. doi: 10.1038/sj.jid.5700291. Epub 2006 Apr 20.

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Am J Clin Dermatol. 2022 Mar;23(2):177-193. doi: 10.1007/s40257-022-00671-6. Epub 2022 Feb 2.

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

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