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TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C. Pigors M, et al. J Invest Dermatol. 2012 Oct;132(10):2422-2429. doi: 10.1038/jid.2012.166. Epub 2012 May 24. J Invest Dermatol. 2012. PMID: 22622422 Free article.
Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
Kiritsi D, Huilaja L, Franzke CW, Kokkonen N, Pazzagli C, Schwieger-Briel A, Larmas M, Bruckner-Tuderman L, Has C, Tasanen K. Kiritsi D, et al. Acta Derm Venereol. 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073. Acta Derm Venereol. 2015. PMID: 25708563 Free article. No abstract available.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
52 results