Associated Papers
High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.
Bonigen J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Epidermolysis bullosa with pyloric atresia.
Chung HJ et al.
Dermatologic Clinics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T et al.
Experimental Dermatology, 2004
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.
Iacovacci S et al.
Experimental Dermatology, 2003
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
Pulkkinen L et al.
American Journal of Human Genetics, 1998
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.
Pulkkinen L et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 1997
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.
Wallerstein R et al.
Pediatric Dermatology, 0
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M et al.
The Turkish Journal of Pediatrics, 0