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 |