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Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation.
Wawrzycki B, Pietrzak A, Chodorowska G, Filip AA, Petit V, Rudnicka L, Dybiec E, Rakowska A, Sobczyńska-Tomaszewska A, Kanitakis J. Wawrzycki B, et al. Among authors: sobczynska tomaszewska a. Postepy Dermatol Alergol. 2019 Jun;36(3):358-364. doi: 10.5114/ada.2018.73437. Epub 2018 Feb 12. Postepy Dermatol Alergol. 2019. PMID: 31333354 Free PMC article. No abstract available.
Immune system disturbances in Clouston syndrome.
Pietrzak A, Grywalska E, Gerkowicz A, Krasowska D, Chodorowska G, Michalska-Jakubus M, Roliński J, Wawrzycki B, Radej S, Dybiec E, Wroński J, Sobczyńska-Tomaszewska A, Rudzki M, Hadj-Rabia S. Pietrzak A, et al. Int J Dermatol. 2016 May;55(5):e241-9. doi: 10.1111/ijd.13152. Epub 2015 Nov 9. Int J Dermatol. 2016. PMID: 26551294
Novel and recurrent COL7A1 mutation in a Polish population.
Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Kutkowska-Kaźmierczak A, Woźniak K, Niepokój K, Klausegger A, Sypniewska-Jutkiewicz J, Stępień A, Bal J. Wertheim-Tysarowska K, et al. Eur J Dermatol. 2012 Jan-Feb;22(1):23-8. doi: 10.1684/ejd.2011.1583. Eur J Dermatol. 2012. PMID: 22266148
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C. Wertheim-Tysarowska K, et al. J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2. J Appl Genet. 2016. PMID: 26432462 Free PMC article.
The COL7A1 mutation database.
Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Skroński M, Swięćkowski G, Kutkowska-Kaźmierczak A, Woźniak K, Bal J. Wertheim-Tysarowska K, et al. Hum Mutat. 2012 Feb;33(2):327-31. doi: 10.1002/humu.21651. Epub 2011 Dec 20. Hum Mutat. 2012. PMID: 22058051
39 results