eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neonatal diabetes mellitus |
| Comorbidity | C0021828|intestinal atresia |
| Sentences | 1 |
| PubMedID- 23914949 | The phenotype of neonatal diabetes with intestinal atresia and biliary agenesis clearly pointed to rfx6 as the causative gene; indeed, whole exome sequencing revealed a novel homozygous rfx6 mutation c.779a>c; p.lys260thr (k260t). |
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