Article
Revision about hearing loss in the Alport's syndrome, analyzing the clinical, genetic and bio-molecular aspects.
Brazilian journal of otorhinolaryngology - 1 Jan 2000
Alves Fátima R A, de A Quintanilha Ribeiro Fernando
Abstract excerpt
Alport Syndrome is a genetic disorder characterized by hematuria, which often leads to renal failure. It may also be accompanied by extra-renal alterations, such as: sensorineural hearing loss, and ocular abnormalities. Dominant forms related to the X chromosome and caused by mutations in the locus COL4A5 have been described, as well as an autossomic recessive form resulting from mutations in the locus COL4A3 or...
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