eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | atrial septal defects |
| Comorbidity | C0011847|diabetes |
| Sentences | 2 |
| PubMedID- 23639568 | This report describes a 40-day-old male infant diagnosed with permanent neonatal diabetes associated with atrial septal defect, pulmonary stenosis, patent ductus arteriosus and a novel de novo heterozygous missense mutation (p.n466s) in the gata6 gene with no evidence of exocrine pancreas insufficiency. |
| PubMedID- 24843749 | A single report has associated an atrial septal defect with neonatal diabetes as a result of pancreatic agenesis and a heterozygous gata4 mutation23. |
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