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Transcription factor gene mutations resulting in thyroid dysgenesis and associated clinical findings
| Mutated Gene | Associated clinical findings |
|---|---|
| Thyroid transcription factor 2 (TTF2) | thyroid dysgenesis, choanal atresia, cleft palate and spiky hair |
| NKX2.1 | congenital hypothyroidism, respiratory distress ataxia and benign chorea |
| NKX2.5 | Congenital hypothyroidism and cardiac malformations |
| PAX-8 | Thyroid dysgenesis, kidney and ureteral malformations |
