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Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
Joint Authors
Zegre Amorim, Marta
Carmo, Sara
Salva, Inês
Pita, Ana
Pereira-da-Silva, Luis
Houghton, J.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-12-03
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome.
The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction.
Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome.
This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
American Psychological Association (APA)
Zegre Amorim, Marta& Houghton, J.& Carmo, Sara& Salva, Inês& Pita, Ana& Pereira-da-Silva, Luis. 2015. Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1058521
Modern Language Association (MLA)
Zegre Amorim, Marta…[et al.]. Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. Case Reports in Genetics No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1058521
American Medical Association (AMA)
Zegre Amorim, Marta& Houghton, J.& Carmo, Sara& Salva, Inês& Pita, Ana& Pereira-da-Silva, Luis. Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1058521
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058521