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Results 1 - 5 of 5 for Arrhythmogenic right ventricular "dysplasia," "familial," 15
  1. ... Registry: Arrhythmogenic right ventricular cardiomyopathy Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair ...
  2. ... CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA CARDIOMYOPATHY, ...
  3. ... DSC3 Tests of DSC2 PubMed DESMOCOLLIN 2; DSC2 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 NCBI Gene ClinVar De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura ... in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2010 ...
  4. ... Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006 Apr 4;113(13):1650- ...
  5. ... syndrome. More About This Health Condition At least 15 mutations in the LMNA gene have been reported ... cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. ...