1.
Indian Pediatr
;
2020 Mar; 57(3): 268-269
Artigo
| IMSEAR
| ID: sea-199514
RESUMO
Interstitial lung disease with nephrotic syndrome and junctionalepidermolysis bullosa is caused by biallelic mutations in theintegrin gene ITGA3 and is associated with death in infancy. Wedescribe a variant of this syndrome with delayed presentation ofsymptoms and prolonged survival.