Associated Papers
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.
Kambal MA et al.
Frontiers in Pediatrics, 2019
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
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.
Cruz L et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
Concepcion JP et al.
Pediatric Diabetes, 2014
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