Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including PERP, a gene encoding a crucial component of desmosomes that has bee...

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Detalles Bibliográficos
Autores principales: González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I., Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M., Quesada-Espinosa, Juan F., Martín, Miguel A., Arteche-López, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379359/
https://www.ncbi.nlm.nih.gov/pubmed/37510397
http://dx.doi.org/10.3390/genes14071494

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379359/
https://www.ncbi.nlm.nih.gov/pubmed/37510397
http://dx.doi.org/10.3390/genes14071494

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