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Klausegger A, Jeschko N, Grammer M, Cemper-Kiesslich J, Neuhuber F, Diem A, Breitenbach-Koller H, Sander G, Kotzot D, Bauer JW, et al. Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status. Diagnostics. 2022; 12(10):2460. https://doi.org/10.3390/diagnostics12102460

Klausegger, Alfred, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer, and et al. 2022. "Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status" Diagnostics 12, no. 10: 2460. https://doi.org/10.3390/diagnostics12102460