A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.
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DOI: 10.1111/pde.15282
Abstract: Mutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. ITGB4-associated autosomal dominant epidermolysis… read more here.
Keywords: itgb4 causing; epidermolysis bullosa; junctional epidermolysis; epidermolysis ... See more keywords