Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction

Genetic variants in gene-encoding proteins involved in cell–cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous syndrome. The cardiac phenotype is characterized by cardiomyopathy and/or arrhyt...

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Detalles Bibliográficos
Autores principales: Vermeer, Mathilde C. S. C., Andrei, Daniela, Marsili, Luisa, van Tintelen, J. Peter, Silljé, Herman H. W., van den Berg, Maarten P., van der Meer, Peter, Bolling, Maria C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9503274/
https://www.ncbi.nlm.nih.gov/pubmed/36142674
http://dx.doi.org/10.3390/ijms231810765

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9503274/
https://www.ncbi.nlm.nih.gov/pubmed/36142674
http://dx.doi.org/10.3390/ijms231810765

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