However, five rare and single-nucleotide missense changes cataloged as benign (NKX2-5, N = 1), VUS (FOXE1 and TSHR, N = 1 each), and likely pathogenic (FOXE1 and TSHR, N = 1 each) were identified in CH-TD patients (Table 1) and were absent from healthy controls. Here, TSHR is linked to thanatophoric dysplasia.