Fanconi syndrome type 3 is an autosomal dominant disorder caused by mutations of the EHHADH gene. As all proximal tubular disorders it is characterized by aminoaciduria, glucosuria, and hyperphosphaturia.
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| 1. |
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
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| 2. |
Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
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