Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency
Indian Pediatr
;
2020 Mar; 57(3): 268-269
Artigo
| IMSEAR
| ID: sea-199514
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo diagnóstico
Revista:
Indian Pediatr
Ano de publicação:
2020
Tipo de documento:
Artigo
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