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Fainting Fanconi syndrome clarified by proxy: a case report.

Stephen Benedict WalshRobert UnwinRobert KletaWilliam Van't HoffPaul BassKhalid HussainSian EllardDetlef Bockenhauer
Published in: BMC nephrology (2017)
Modern sequencing technologies that test multiple genes simultaneously enable specific diagnoses, even if the underlying disorder was not clinically suspected. The finding of mitochondrial dysmorphology provides a potential clue for the mechanism, by which the identified mutation causes renal Fanconi syndrome.
Keyphrases
  • case report
  • oxidative stress
  • genome wide
  • single cell
  • gene expression