Fainting Fanconi syndrome clarified by proxy: a case report.
Stephen Benedict WalshRobert UnwinRobert KletaWilliam Van't HoffPaul BassKhalid HussainSian EllardDetlef BockenhauerPublished 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.