GLI3 and Pallister-Hall syndrome: However, to date, approximately 15% of patients with nonsyndromic HH have mosaic GLI3 variants in sequenced HH tissue.6, 7, 8,10 All of these reported mosaic GLI3 variants are PTVs, residing in the pathogenic PHS region of GLI3. 6, 7, 8,10 Until now, the genetic findings in GLI3-related HH have been demarcated by germline variants in PHS, and mosaic variants presumed to be restricted to brain in individuals with nonsyndromic HH.