A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

BACKGROUND: PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP). PPK should trigger genetic testing to reveal mutation...

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Detalles Bibliográficos
Autores principales: Karvonen, V., Harjama, L., Heliö, K., Kettunen, K., Elomaa, O., Koskenvuo, J.W., Kere, J., Weckström, S., Holmström, M., Saarela, J., Ranki, A., Heliö, T., Hannula‐Jouppi, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles and Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545885/
https://www.ncbi.nlm.nih.gov/pubmed/35445468
http://dx.doi.org/10.1111/jdv.18164

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