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

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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Bibliographic Details
Main Authors: Fozia Fozia, Rubina Nazli, Nousheen Bibi, Sher Alam Khan, Noor Muhammad, Nafila Shakeeb, Saadullah Khan, Musharraf Jelani, Naveed Wasif
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Pediatrics
Subjects:
epidermolysis bullosa
exome sequence
COL17A1 gene
PLEC gene
autosomal recessive
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.727288/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.727288/full

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