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Phänotypische Vielfalt bei Varianten im TP63-Gen.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):871-875. doi: 10.1111/ddg.14770_g. J Dtsch Dermatol Ges. 2022. PMID: 35711055 No abstract available.
Phenotype diversity associated with TP63 mutations.
Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. J Dtsch Dermatol Ges. 2022. PMID: 35593033 No abstract available.
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Nabhani S, Hönscheid A, Oommen PT, Fleckenstein B, Schaper J, Kuhlen M, Laws HJ, Borkhardt A, Fischer U. Nabhani S, et al. Among authors: schaper j. Clin Immunol. 2014 Dec;155(2):231-7. doi: 10.1016/j.clim.2014.10.006. Epub 2014 Oct 24. Clin Immunol. 2014. PMID: 25451160
375 results