Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency

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ip2020v57n3p268.pdf (73.48 KB)
Date
2020-03
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Publisher
Indian Academy of Pediatrics
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.
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Keywords
Epidermolysis bullosa, ILNEB syndrome, Nephroticsyndrome
Citation
Tarur Sumitha Udayashankar, Srinivasan S, Seeralar Arasar . Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency. Indian Pediatrics. 2020 Mar; 57(3): 268-269
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https://imsear.searo.who.int/handle/123456789/199514
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Indian Pediatrics