Associated Papers
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Al-Shafai KN et al.
Molecular Genetics & Genomic Medicine, 2021
34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1
Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia.
Rosset S et al.
Heartrhythm Case Reports, 2019
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA et al.
The Journal of Allergy and Clinical Immunology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
[Ventricular arrhythmias of catecholaminergic origin and sudden death].
Jalife J
Archivos De Cardiologia De Mexico, 0
Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.
Márquez MF et al.
Archivos De Cardiologia De Mexico, 0
A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.
Srinivas SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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