A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
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DOI: 10.1097/md.0000000000032970
Abstract: Rationale: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis… read more here.
Keywords: congenital nephrotic; nphs1 gene; nephrotic syndrome; heterozygous mutation ... See more keywords