Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6
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 va...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2019-06-01T00:00:00Z.
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