Article
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Orphanet journal of rare diseases - 5 Nov 2024
Wertheim-Tysarowska Katarzyna, Osipowicz Katarzyna, Woźniak Katarzyna, Sawicka Justyna, Mika Adrianna, Kutkowska-Kaźmierczak Anna, Niepokój Katarzyna, Sobczyńska-Tomaszewska Agnieszka, Wawrzycki Bartłomiej, Pietrzak Aldona, Śmigiel Robert, Wojtaś Bartosz, Gielniewski Bartłomiej, Szabelska-Beresewicz Alicja, Zyprych-Walczak Joanna, Rygiel Agnieszka Magdalena, Domaszewicz Alicja, Braun-Walicka Natalia, Grabarczyk Alicja, Rzońca-Niewczas Sylwia, Lidia Ruszkowska, Dawidziuk Mateusz, Domański Dominik, Gambin Tomasz, Jackiewicz Monika, Duk Katarzyna, Dorożko Barbara, Szczygielski Orest, Krześniak Natalia, Noszczyk Bartłomiej H, Obersztyn Ewa, Wierzba Jolanta, Barczyk Artur, Castaneda Jennifer, Eckersdorf-Mastalerz Anna, Jakubiuk-Tomaszuk Anna, Własienko Paweł, Jaszczuk Ilona, Jezela-Stanek Aleksandra, Klapecki Jakub, van Geel Michel, Kowalewski Cezary, Bal Jerzy, Gostyński Antoni
Abstract excerpt
BACKGROUND: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal,...
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