NKX2-1 and brain-lung-thyroid syndrome: In a study and report from the University of Cardiff and other centers in the UK, of 10 probands with BHC and NKX2-1 mutations, 8 presented with muscle hypotonia and 4 with hypothyroidism; only 3 of the 10 cases had the full triad of “brain-lung-thyroid syndrome [2].