Associated Papers
A novel bladder phenotype in junctional epidermolysis bullosa: a case report.
He Q et al.
Frontiers in Pediatrics, 2025
Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.
Klangjorhor J et al.
International Journal of Genomics, 2025
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
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N et al.
Acta Dermato-venereologica, 2008
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
Select a paper to view details