Neonatal Diabetes, Gallbladder Agenesis, Duodenal Atresia, and Intestinal Malrotation Caused by a Novel Homozygous Mutation in RFX6

BACKGROUND: Recently, bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary hypoplasia and duodenal/jejunal atresia. CLINICAL CASE: A male infant developed severe hyperglycemia (446 mg/dL)...

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Hauptverfasser: Concepcion, Jennifer P., Reh, Christina S., Daniels, Mark, Liu, Xiaoming, Paz, Veronica P, Ye, Honggang, Highland, Heather M., Hanis, Craig L., Greeley, Siri Atma W
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3871990/
https://ncbi.nlm.nih.gov/pubmed/23914949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12063
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