In fact, rare hemizygous variants in the CDC45 gene were found in 5/15 (33%) of the patients reported by Unolt et al., with both a 22q11.2 deletion and atypical clinical features in 3/7 of the patients (43%) including craniosynostosis (2 bicoronal, 1 metopic) and none of the 133 22q11.2DS patients from the control group (Fisher’s test p value < 0.01). Here, CDC45 is linked to craniosynostosis.