The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology

Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in LORICRIN have been described, with all of them but one being deletions or insertions. The signi...

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Detalles Bibliográficos
Autores principales: Wertheim-Tysarowska, Katarzyna, Osipowicz, Katarzyna, Gielniewski, Bartłomiej, Wojtaś, Bartosz, Szabelska-Beręsewicz, Alicja, Zyprych-Walczak, Joanna, Mika, Adriana, Tysarowski, Andrzej, Duk, Katarzyna, Rygiel, Agnieszka Magdalena, Niepokój, Katarzyna, Woźniak, Katarzyna, Kowalewski, Cezary, Wierzba, Jolanta, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10254037/
https://www.ncbi.nlm.nih.gov/pubmed/37298411
http://dx.doi.org/10.3390/ijms24119459

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