Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
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...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681791/ |