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...

Descripción completa

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

Internet

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

Ejemplares similares