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Volumn 39, Issue 1, 2014, Pages 30-34

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPLAKIN; ENALAPRIL; FUROSEMIDE; GENOMIC DNA; KERATIN; METOPROLOL; NATRIURETIC FACTOR; SPIRONOLACTONE;

EID: 84890449479     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12226     Document Type: Article
Times cited : (15)

References (10)
  • 1
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene can result in ectodermal dysplasia/skin fragility syndrome
    • McGrath JA, McMillan JR, Shemanko CS, et al,. Mutations in the plakophilin 1 gene can result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-4.
    • (1997) Nat Genet , vol.17 , pp. 240-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 2
    • 70449473084 scopus 로고    scopus 로고
    • Skin and heart: Une liaison dangereuse
    • Bolling MC, Jonkman MF,. Skin and heart: une liaison dangereuse. Exp Dermatol 2009; 18: 658-68.
    • (2009) Exp Dermatol , vol.18 , pp. 658-668
    • Bolling, M.C.1    Jonkman, M.F.2
  • 5
    • 0033401667 scopus 로고    scopus 로고
    • Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
    • Whittock NV, Ashton GH, Dopping-Hepenstal PJ, et al,. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999; 113: 940-6.
    • (1999) J Invest Dermatol , vol.113 , pp. 940-946
    • Whittock, N.V.1    Ashton, G.H.2    Dopping-Hepenstal, P.J.3
  • 6
    • 77949512686 scopus 로고    scopus 로고
    • Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities
    • Mahoney MG, Sadowski S, Brennan D, et al,. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol 2010; 130: 968-78.
    • (2010) J Invest Dermatol , vol.130 , pp. 968-978
    • Mahoney, M.G.1    Sadowski, S.2    Brennan, D.3
  • 7
    • 0025363916 scopus 로고
    • Structure of the human desmoplakins. Implications for function in the desmosomal plaque
    • Green KJ, Parry DA, Steinert PM, et al,. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990; 265: 2603-12.
    • (1990) J Biol Chem , vol.265 , pp. 2603-2612
    • Green, K.J.1    Parry, D.A.2    Steinert, P.M.3
  • 9
    • 33646558843 scopus 로고    scopus 로고
    • Loss of desmoplakin isoform i causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
    • Uzumcu A, Norgett EE, Dindar A, et al,. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 2006; 43: e5.
    • (2006) J Med Genet , vol.43
    • Uzumcu, A.1    Norgett, E.E.2    Dindar, A.3
  • 10
    • 77957961200 scopus 로고    scopus 로고
    • Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa
    • Hobbs RP, Han SY, van der Zwaag PA, et al,. Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa. J Invest Dermatol 2010; 130: 2680-3.
    • (2010) J Invest Dermatol , vol.130 , pp. 2680-2683
    • Hobbs, R.P.1    Han, S.Y.2    Van Der Zwaag, P.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.