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Article

Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6

18 Jun 2019

Abstract excerpt

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 Klebsiella...

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PMID: 31275908
DOI: 10.3389/fped.2019.00243

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