Autosomal dominant idiopathic Fanconi syndrome is caused by a HNF4A mutation R76W. Besides the beta cell related phenotype of MODY1, a renotubular Fanconi syndrome is present.
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Hamilton AJ et al. (2014) The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. ![]() |