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
Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.
Diociaiuti A et al.
Acta Dermato-venereologica, 2013
Epidermolysis bullosa with pyloric atresia.
Chung HJ et al.
Dermatologic Clinics, 2010
[Hereditary blistering disorders].
Has C et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2004
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T et al.
Experimental Dermatology, 2004
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
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
Chavanas S et al.
Human Molecular Genetics, 1999
Molecular pathology of the cutaneous basement membrane zone.
Mellerio JE
Clinical and Experimental Dermatology, 1999
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
Junctional epidermolysis bullosa with pyloric atresia: A case with favourable outcome.
Ha D et al.
Journal of Cutaneous Medicine and Surgery, 1998
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
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