Our findings on ITGA3 compound heterozygous patients with an ILNEB-like clinical presentation may account for underestimate of integrin α3 mutated cases and should be kept into account in the processing of exome data from phenotypically candidate patients born to families without consanguinity. This evidence concerns the gene ITGA3 and epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.