Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene
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DOI: 10.1186/s12882-017-0735-y
Abstract: BackgroundAlport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or… read more here.
Keywords: phenotype; col4a3 gene; syndrome; spanish family ... See more keywords