eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | thyroid hypoplasia |
| Comorbidity | C0020676|hypothyroid |
| Sentences | 1 |
| PubMedID- 25146893 | Methods: we screened a hypothyroid child with thyroid hypoplasia for mutations in pax8, tshr, nkx2.1, nkx2.5 and foxe1 genes. |
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