Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Congenital ILNEB syndrome is an autosomal recessive disorder caused by mutations of the ITGA3 gene. It is characterized by congenital nephrotic syndrome, interstitial lung disease, and epidemiolysis bullosa.
Has C et al. (2012) Integrin α3 mutations with kidney, lung, and skin disease.[^]
Yalcin EG et al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.[^]
OMIM.ORG articleOmim 614748 [^]
Orphanet articleOrphanet ID 182095 [^]