학술논문
Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous α3 Integrin Deficiency
Document Type
Letter
Source
Indian Pediatrics. 57(3):268-269
Subject
Language
English
ISSN
0019-6061
0974-7559
0974-7559
Abstract
Interstitial lung disease with nephrotic syndrome and junctional epidermolysis bullosa is caused by biallelic mutations in the integrin gene ITGA3 and is associated with death in infancy. We describe a variant of this syndrome with delayed presentation of symptoms and prolonged survival.