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Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

Desmoplakin (DP) anchors the intermediate filament cytoskeleton to the desmosomal cadherins and thereby confers structural stability to tissues. In this study, we present a patient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and sp...

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Detalhes bibliográficos
Publicado no:J Invest Dermatol
Main Authors: Mahoney, Mỹ G., Sadowski, Sara, Brennan, Donna, Pikander, Pekka, Saukko, Pekka, Wahl, James, Aho, Heikki, Heikinheimo, Kristiina, Bruckner-Tuderman, Leena, Fertala, Andrzej, Peltonen, Juha, Uitto, Jouni, Peltonen, Sirkku
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4246507/
https://ncbi.nlm.nih.gov/pubmed/19924139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2009.357
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