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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

Elizabeth E. Norgett, Tom W. Lucke, Bill Bowers, Colin S. Munro, Irene M. Leigh, David P. Kelsell
2006 Journal of Investigative Dermatology  

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tion. Br J Dermatol 151(Suppl 68):104 (abstract) Morison WL, Stern RS (1982) Polymorphous light eruption: a common reaction uncommonly recognized. Acta Derm Venereol (Stockh) 62:237-40 Pao C, Norris PG, Corbett M, Hawk JLM (1994) Polymorphic light eruption: prevalence in Australia and England. Br J Dermatol 130:62-4 Ros AM, Wennersten G (1986) Current aspects of polymorphous light eruption in Sweden. Photodermatology 3:298-302 Wittkowski A, Richards HL, Griffiths CE, Main CJ (2004) The impact
more » ... psychological and clinical factors on quality of life in individuals with atopic dermatitis. Figure 1. Skin and hair phenotypes of patient. Clinical pictures showing the striated keratoderma on (a) palm and (b) sole of the patient and (c, d) the woolly hair phenotype. Abbreviations: Dp, Desmoplakin
doi:10.1038/sj.jid.5700291 pmid:16628197 fatcat:lbga4c2rofcmtcuyffwpaxq3d4
Citation

Elizabeth E. Norgett, Tom W. Lucke, Bill Bowers, Colin S. Munro, Irene M. Leigh, David P. Kelsell. "Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin." Journal of Investigative Dermatology 126.7 (2006) 1651-1654