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6. Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. Yesudian PD; Cabral RM; Ladusans E; Spinty S; Gibbs J; Fryer A; Christiano AM; Mendelsohn SS Clin Exp Dermatol; 2014 Jun; 39(4):506-8. PubMed ID: 24825141 [TBL] [Abstract][Full Text] [Related]
7. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations. Vahlquist A; Virtanen M; Hellström-Pigg M; Dragomir A; Ryberg K; Wilson NJ; Östman--Smith I; Lu L; McGrath JA; Smith FJ Clin Exp Dermatol; 2014 Jan; 39(1):30-4. PubMed ID: 24341478 [TBL] [Abstract][Full Text] [Related]
8. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Erken H; Yariz KO; Duman D; Kaya CT; Sayin T; Heper AO; Tekin M Br J Dermatol; 2011 Oct; 165(4):917-21. PubMed ID: 21668431 [TBL] [Abstract][Full Text] [Related]
9. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. Pigors M; Schwieger-Briel A; Cosgarea R; Diaconeasa A; Bruckner-Tuderman L; Fleck T; Has C Acta Derm Venereol; 2015 Mar; 95(3):337-40. PubMed ID: 25227139 [TBL] [Abstract][Full Text] [Related]
10. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. Mahoney MG; Sadowski S; Brennan D; Pikander P; Saukko P; Wahl J; Aho H; Heikinheimo K; Bruckner-Tuderman L; Fertala A; Peltonen J; Uitto J; Peltonen S J Invest Dermatol; 2010 Apr; 130(4):968-78. PubMed ID: 19924139 [TBL] [Abstract][Full Text] [Related]
11. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Bolling MC; Veenstra MJ; Jonkman MF; Diercks GF; Curry CJ; Fisher J; Pas HH; Bruckner AL Br J Dermatol; 2010 Jun; 162(6):1388-94. PubMed ID: 20302578 [TBL] [Abstract][Full Text] [Related]
12. A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma. Xue K; Zheng Y; Cui Y J Cosmet Dermatol; 2019 Feb; 18(1):371-376. PubMed ID: 29607617 [TBL] [Abstract][Full Text] [Related]
13. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Ou S; Cesarato N; Mauran P; Gellé MP; Thiele H; Betz RC; Viguier M; Gusdorf L Clin Exp Dermatol; 2022 Jul; 47(7):1424-1426. PubMed ID: 35574671 [TBL] [Abstract][Full Text] [Related]
14. Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. Maruthappu T; Posafalvi A; Castelletti S; Delaney PJ; Syrris P; O'Toole EA; Green KJ; Elliott PM; Lambiase PD; Tinker A; McKenna WJ; Kelsell DP Br J Dermatol; 2019 May; 180(5):1114-1122. PubMed ID: 30382575 [TBL] [Abstract][Full Text] [Related]
15. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Tanaka A; Lai-Cheong JE; Café ME; Gontijo B; Salomão PR; Pereira L; McGrath JA Br J Dermatol; 2009 Mar; 160(3):692-7. PubMed ID: 19016709 [TBL] [Abstract][Full Text] [Related]