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

Wertheim-Tysarowska, K; Osipowicz, K; Gielniewski, B; Wojtas, B; Szabelska-Beresewicz, A; Zyprych-Walczak, J; Mika, A; Tysarowski, A; Duk, K; Rygiel, AM; Niepokój, K; Wozniak, K; Kowalewski, C; Wierzba, J; Jezela-Stanek, A

Wertheim-Tysarowska, K (通讯作者),Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023; 24 (11):

Abstract

Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fu......

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