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

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the <i>PERP</i> 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 <i>PERP</i>, a gene encoding a crucial component of desm...

Full description

Bibliographic Details
Main Authors: Adrián González-Quintana, Rocío Garrido-Moraga, Sara I. Palencia-Pérez, Ángela Hernández-Martín, Jon Sánchez-Munárriz, José M. Lezana-Rosales, Juan F. Quesada-Espinosa, Miguel A. Martín, Ana Arteche-López
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
<i>PERP</i>
erythrokeratodema
palmoplantar keratoderma
HPO
Online Access:https://www.mdpi.com/2073-4425/14/7/1494

Internet

https://www.mdpi.com/2073-4425/14/7/1494

Similar Items