Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
about
Naxos disease: cardiocutaneous syndrome due to cell adhesion defectMutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathyLoss of desmoplakin tail causes lethal acantholytic epidermolysis bullosaMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force CriteriaCompound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)Is cardiac MRI an effective test for arrhythmogenic right ventricular cardiomyopathy diagnosis?Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle.Genetics of sudden cardiac death.Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalitiesDsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratodermaDependence of electrical coupling on mechanical coupling in cardiac myocytes: insights gained from cardiomyopathies caused by defects in cell-cell connections.Adhesion molecules: why they are important to the electrophysiologist.Dysregulation of cell adhesion proteins and cardiac arrhythmogenesis.A global perspective of arrhythmogenic right ventricular cardiomyopathy.Desmosomes: adhesive strength and signalling in health and disease.Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.Desmosomal genodermatoses.Variant Carvajal syndrome with additional dental anomalies.When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathyScience and practice of arrhythmogenic cardiomyopathy: A paradigm shift.Desmosomes in the heart: a review of clinical and mechanistic analyses.Arrhythmogenic cardiomyopathy: a disease of intercalated discs.Inherited desmosomal disorders.The twisting tale of woolly hair: a trait with many causes.Passive ventricular remodeling in cardiac disease: focus on heterogeneity.The research venture in arrhythmogenic right ventricular cardiomyopathy: a paradigm of translational medicine.Mal de Meleda: A Focused Review.Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria.Molecular mechanisms in the pathogenesis of arrhythmogenic cardiomyopathy.Carvajal Syndrome.Naxos diseaseA case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease.Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.
P2860
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P2860
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@ast
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@en
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@nl
type
label
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@ast
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@en
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@nl
prefLabel
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@ast
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@en
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@nl
P1476
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
@en
P2093
L Carvajal-Huerta
P304
P356
10.1016/S0190-9622(98)70317-2
P407
P577
1998-09-01T00:00:00Z