Llwytho...
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...
Wedi'i Gadw mewn:
Cyhoeddwyd yn: | J Invest Dermatol |
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Prif Awduron: | , , , , , , , , , , , , |
Fformat: | Artigo |
Iaith: | Inglês |
Cyhoeddwyd: |
2009
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Pynciau: | |
Mynediad Ar-lein: | 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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