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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.

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Bibliographic Details
Title: 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.
Authors: Wertheim-Tysarowska, Katarzyna1 (AUTHOR) katarzyna.wertheim@imid.med.pl, Osipowicz, Katarzyna2 (AUTHOR), Woźniak, Katarzyna2,3 (AUTHOR), Sawicka, Justyna1 (AUTHOR), Mika, Adrianna4 (AUTHOR), Kutkowska-Kaźmierczak, Anna1 (AUTHOR), Niepokój, Katarzyna1 (AUTHOR), Sobczyńska-Tomaszewska, Agnieszka5 (AUTHOR), Wawrzycki, Bartłomiej6 (AUTHOR), Pietrzak, Aldona6 (AUTHOR), Śmigiel, Robert7 (AUTHOR), Wojtaś, Bartosz8 (AUTHOR), Gielniewski, Bartłomiej9 (AUTHOR), Szabelska-Beresewicz, Alicja10 (AUTHOR), Zyprych-Walczak, Joanna10 (AUTHOR), Rygiel, Agnieszka Magdalena1 (AUTHOR), Domaszewicz, Alicja1 (AUTHOR), Braun-Walicka, Natalia1 (AUTHOR), Grabarczyk, Alicja1 (AUTHOR), Rzońca-Niewczas, Sylwia1 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 11/5/2024, Vol. 19 Issue 1, p1-14. 14p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-024-03395-4