Condition: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
rs587777732 in
MIR3646;HNF4A gene and
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
PMID 20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
PMID 27245055 2016 Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
PMID 25819479 2015 Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.
PMID 28693455 2017 Fainting Fanconi syndrome clarified by proxy: a case report.
PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
PMID 22802087 2012 Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
PMID 28458902 2017 Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.