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.
1. |
Has C et al. (2012) Integrin α3 mutations with kidney, lung, and skin disease. |
2. |
Yalcin EG et al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome. |
3. |
OMIM.ORG article Omim 614748 |
4. |
Orphanet article Orphanet ID 182095 |