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

Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the COL7A1 gene that impair the formation of collagen type VII, which repres...

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Detalles Bibliográficos
Autores principales: Klausegger, Alfred, Jeschko, Niklas, Grammer, Markus, Cemper-Kiesslich, Jan, Neuhuber, Franz, Diem, Anja, Breitenbach-Koller, Hannelore, Sander, Gabriele, Kotzot, Dieter, Bauer, Johann Wolfgang, Laimer, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600310/
https://www.ncbi.nlm.nih.gov/pubmed/36292148
http://dx.doi.org/10.3390/diagnostics12102460

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600310/
https://www.ncbi.nlm.nih.gov/pubmed/36292148
http://dx.doi.org/10.3390/diagnostics12102460

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