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Updated: May 13, 2025
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The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers
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Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases
Quinn Stein1, Ryan Mascarenhas2, Sumit Punj1
1Natera Inc. Austin Texas USA.
Clinical Case Reports
|April 16, 2025
Abstract:
RMND1-related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney-related conditions that have a high degree of clinical heterogeneity.
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