In line with this hypothesis, we have previously described an unrecognized hypercholesterolemia in girls affected by the syndrome [41] and pointed out the possibility of an abnormal cholesterol synthesis with a likely partial block in the squalene catabolism due to coexistence of heterozygous mutations in CYP24A1 (OMIM∗126065) or TM7SF2 (OMIM∗603414), which encode the proteins CP24A and ERG24, respectively [18]. The gene discussed is CYP24A1; the disease is Hypercholesterolemia.