Fig. 1

Patient’s pedigree and results from genetic testing. Whole exome sequencing identified a heterozygous “de novo” pathogenic variant NM_001252634.1(THRB):c.1012C > T changing evolutionary conserved amino acid Arg338 to Trp (p.Arg338Trp). The variant was not found in the healthy parents (I:1, I:2) and sister (II:1), both maternity and paternity was confirmed with microsatellite testing (data not shown)