Mitchell-Riley Syndrome: A rare genetic disorder, case report
Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the RFX6 gene. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/m...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Rare |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000255 |
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