Biallelic mutations in ITGB4 are well-known to cause congenital pyloric atresia and a neonatal, junctional type of epidermolysis bullosa (JT-EB).2, 3, 4In JT-EB, the basement membrane shows disruption at the lamina lucida region, an area of the extracellular matrix where integrin heterodimers protrude. The gene discussed is ITGB4; the disease is epidermolysis bullosa.