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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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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2013
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| Assuntos: | |
| Acceso en liña: | 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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