Article
Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency.
Indian pediatrics - 15 Mar 2020
Tarur Sumitha Udayashankar, Srinivasan S, Seeralar Arasar
Abstract excerpt
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.
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