Figure 2.
Domain organization of NK2 homeobox 1 (NKX2‐1)/thyroid transcription factor 1 (TTF‐1) showing the identified mutations. A schematic representation of human NKX2‐1/TTF‐1 showing the positions of non‐synonymous mutations detected in this cohort. Numbers refer to amino acid residues. A missense mutation is shown as a green point, nonsense as red, and frameshift as blue.