Table 5

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


Rastogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17   doi:10.1186/1750-1172-5-17

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