Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference15 articles.
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2. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis;Chappel;Am J Med Genet A.,2008
3. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn;Martinovici;Eur J Genet.,2010
4. Rfx6 directs islet formation and insulin production in mice and humans;Smith;Nature.,2010
5. Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations;Spiegel;Am J Med Genet A.,2011
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1. Human organoid modeling of congenital malformations caused by RFX6 mutations reveal an essential role for this transcription factor in establishing and maintaining duodenal identity upstream of PDX1;2023-11-11
2. Rare Forms of Early Onset Diabetes;Neonatal and Early Onset Diabetes Mellitus;2023
3. The genetics of monogenic intestinal epithelial disorders;Human Genetics;2022-11-23
4. Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations;Frontiers in Endocrinology;2022-06-22
5. First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome;Pediatric Transplantation;2022-03-20
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