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

• Main Authors: Fozia Fozia (Author), Rubina Nazli (Author), Nousheen Bibi (Author), Sher Alam Khan (Author), Noor Muhammad (Author), Nafila Shakeeb (Author), Saadullah Khan (Author), Musharraf Jelani (Author), Naveed Wasif (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...