Article

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil

2019-12-17

Abstract excerpt

<h4>Background</h4> Alport syndrome is a progressive and hereditary nephropathy, characterized by hematuria and proteinuria, and extrarenal manifestations as hearing loss and eye abnormalities. The disease can be expressed as autosomal recessive or dominant, caused by variants in COL4A3 and COL4A4 loci , respectively, or X-linked caused by variants in COL4A5 locus . <h4>Methods</h4> Two unrelated families wit...

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Literature Corpus work: 39221f8b-0ff7-56b4-afa6-d13c22b03502
DOI: 10.1101/2019.12.17.878918

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