Fig. 3

Schematic of the validation results by Sanger sequencing of KDM6 A and INSR variants in the proband and her parents. Above: proband. Middle: proband’s father. Below: proband’s mother. A Sanger sequencing results of the frameshift mutation (c.2177 del) in the proband. B Sanger sequencing results of the missense mutation (c.2447 C > T) in the proband and her mother