ArticleFrontiers in pediatrics2019
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6.
Article in Frontiers in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- RFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.Diabetology international · 2026Review
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- RFX3 is essential for the generation of functional human pancreatic islets from stem cells.Diabetologia · 2025Article
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025Review
- RFX6 regulates human intestinal patterning and function upstream of PDX1.Development (Cambridge, England) · 2024Article
- Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.Frontiers in endocrinology · 2022Article
- Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). Despite intensive management, the patient died from severe
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Registered trials
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