Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin. Dystrophic EB (DEB) includes variants inherited both in an autosomal-dominant or autosomal-recessive manner. Recessive dystrophic EB (...

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Detalles Bibliográficos
Autores principales: Fozia, Fozia, Nazli, Rubina, Alrashed, May Mohammed, Ghneim, Hazem K., Haq, Zia Ul, Jabeen, Musarrat, Alam Khan, Sher, Ahmad, Ijaz, Bourhia, Mohammed, Aboul-Soud, Mourad A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316163/
https://www.ncbi.nlm.nih.gov/pubmed/35885431
http://dx.doi.org/10.3390/diagnostics12071525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316163/
https://www.ncbi.nlm.nih.gov/pubmed/35885431
http://dx.doi.org/10.3390/diagnostics12071525

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