Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin

Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to...

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Detalles Bibliográficos
Autores principales: JÄGLE, Sabine, JURATLI, Hazem A., HICKMAN, Geoffroy, SÜSSMUTH, Kira, BOENTE, Maria C., KOPP, Julia, KIRCHMEIER, Peter, ZIMMER, Andreas, HAPPLE, Rudolf, BOURRAT, Emmanuelle, HAMM, Henning, FISCHER, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Publication of Acta Dermato-Venereologica 2021
Materias:
Investigative Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366687/
https://www.ncbi.nlm.nih.gov/pubmed/33491095
http://dx.doi.org/10.2340/00015555-3753

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