Associated Papers
A novel bladder phenotype in junctional epidermolysis bullosa: a case report.
He Q et al.
Frontiers in Pediatrics, 2025
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
Luo C et al.
Frontiers in Pediatrics, 2023
37033187 (PubMed )
Supplement: Datasheet1.pdf
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C et al.
Jaad Case Reports, 2021
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
Ko L et al.
The Journal of Pediatrics, 2018
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
Schumann H et al.
The British Journal of Dermatology, 2013
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