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Volumn 161, Issue 1, 2012, Pages 50-52
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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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Author keywords
Arrhythmogenic right ventricular cardiomyopathy; Desmoplakin gene; Leukonychia; Naxos disease; Oligodentia
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Indexed keywords
DESMOPLAKIN;
DNA;
GADOLINIUM;
ISOLEUCINE;
THREONINE;
ADULT;
AUTOSOMAL DOMINANT INHERITANCE;
CARDIOVASCULAR MAGNETIC RESONANCE;
CARVAJAL NAXOS SYNDROME;
CASE REPORT;
CONGESTIVE CARDIOMYOPATHY;
CONTRAST ENHANCEMENT;
CONTROLLED STUDY;
DEFIBRILLATION;
DESMOPLAKIN GENE;
DISEASE ASSOCIATION;
ECHOCARDIOGRAPHY;
ELECTROCARDIOGRAM;
FAMILY HISTORY;
GENE;
GENE MUTATION;
HEART DILATATION;
HEART LEFT VENTRICLE EJECTION FRACTION;
HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME;
HEART LEFT VENTRICLE FAILURE;
HEART RIGHT VENTRICLE DYSPLASIA;
HEART VENTRICLE EXTRASYSTOLE;
HUMAN;
HUMAN TISSUE;
IMPLANTABLE CARDIOVERTER DEFIBRILLATOR;
LETTER;
LEUKONYCHIA;
MALE;
MISSENSE MUTATION;
NAIL DISEASE;
NUCLEOTIDE SEQUENCE;
OLIGODONTIA;
PALMOPLANTAR KERATODERMA;
PHENOTYPE;
PRIORITY JOURNAL;
QRS COMPLEX;
SKIN BIOPSY;
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EID: 84867397416
PISSN: 01675273
EISSN: 18741754
Source Type: Journal
DOI: 10.1016/j.ijcard.2012.06.068 Document Type: Article |
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Times cited : (28)
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References (4)
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