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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 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
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T et al.
Experimental Dermatology, 2004
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
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
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
Pulkkinen L et al.
The American Journal of Pathology, 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
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
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.
Pulkkinen L et al.
Experimental Dermatology, 0
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