Figure 1. Chromatograms show the presence of some genetic variants detected in this study. CYP1B1 variants were detected in the index case in family 1 (A, B). MYOC variants were found in the index cases in families 2 (C) and 3 (D). The FOXC1 variant was detected in the siblings of family 4 (E), and the COL2A1 variant was found in family 5 (F).
