Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
|
30993396 |
2019 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
|
28442525 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
|
26735901 |
2016 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.
|
25824144 |
2016 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
|
25516398 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
|
25616645 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
|
25820315 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
MGD |
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
|
25659760 |
2015 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS).
|
23137101 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23810894 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
24070718 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.
|
23500315 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient.
|
21789513 |
2011 |