Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a genetic skin disorder that shows heterogeneous clinical fragility. The patients develop skin blisters congenitally or in the early years of life at the dermo-epithelial junctions, including erosions, hyperkeratosis over the palms and soles. The other associated featur...

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Detalles Bibliográficos
Autores principales: Fozia, Fozia, Nazli, Rubina, Bibi, Nousheen, Khan, Sher Alam, Muhammad, Noor, Shakeeb, Nafila, Khan, Saadullah, Jelani, Musharraf, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369263/
https://www.ncbi.nlm.nih.gov/pubmed/34414147
http://dx.doi.org/10.3389/fped.2021.727288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369263/
https://www.ncbi.nlm.nih.gov/pubmed/34414147
http://dx.doi.org/10.3389/fped.2021.727288

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