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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease c syndrome
Comorbidity C0022661|end-stage renal failure
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PubMedID- 21904677 Recent work in humans has shown that the tetraspanin cd151 is essential for the function of the kidney, as mutations in cd151 have been identified in three patients presenting with hereditary nephrotic syndrome leading to end-stage renal failure, pretibial bullous skin lesions, sensorineural deafness, and thalassemia.

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