Besides p.A119S, two other NKX2-5 mutations [i.e. c.73C>T (p.R25C) and c.482G>C (p.R161P)] were found in thyroid dysgenesis (TD), in patients with or without cardiac anomalies, to suggest NKX2-5 mutations to have variable penetrance and a broader impact in organogenesis and pathophysiology. Here, NKX2-5 is linked to thanatophoric dysplasia.