Associated Papers
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
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.
D'Alessio M et al.
The Journal of Investigative Dermatology, 2008
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
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T et al.
Experimental Dermatology, 2004
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
Jonkman MF et al.
The Journal of Investigative Dermatology, 2002
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A et al.
Pediatric Research, 2001
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 human integrin beta4 gene.
Iacovacci S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 1997
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Christiano AM et al.
Prenatal Diagnosis, 1997
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Kivirikko S et al.
Human Molecular Genetics, 1996
Molecular complexity of the cutaneous basement membrane zone.
Uitto J et al.
Molecular Biology Reports, 1996
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