An ITGB4 variant modifies the severity of ITGA3-associated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB)
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Biallelic ITGA3 variants cause a rare subtype of junctional epidermolysis bullosa named interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB). ILNEB is characterized by extensive clinical heterogeneity, suggesting the existence of mo... ...
