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We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the β4 integrin gene, ITGB4, was identified. By immunofluorescence, β4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the...
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