Associated Papers
Congenital forms of diabetes: the beta-cell and beyond.
Letourneau LR et al.
Current Opinion in Genetics & Development, 2018
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA et al.
Nature Communications, 2017
29026101 (PubMed )
Supplement: 41467_2017_895_MOESM1_ESM.pdf
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.
Skopkova M et al.
European Journal of Medical Genetics, 2016
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
Khan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Sansbury FH et al.
European Journal of Human Genetics : Ejhg, 2015
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