Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gallbladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome;Mitchell;Diabetologia.,2004
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. RFX6 regulates human intestinal patterning and function upstream of PDX1;Development;2024-05-01
2. Mitchell-Riley Syndrome: A rare genetic disorder, case report;Rare;2024
3. 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
4. Rare Forms of Early Onset Diabetes;Neonatal and Early Onset Diabetes Mellitus;2023
5. The genetics of monogenic intestinal epithelial disorders;Human Genetics;2022-11-23
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