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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: 2009
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Article
Online adgang: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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