Clinical delineation of the PACS1-related syndrome—Report on 19 patients

Original research article by J.H. Schuurs-Hoeijmakers et al. (2016).

Read the abstract here.

This article primarily reports on 16 people with intellectual disability and an identified PACS1 change. These 16 people and their parents had received whole-exome sequencing, which found that the 16 had the same de novo PACS1 change as the three people previously reported in the literature. In addition, they had intellectual disability, distinctive facial features, and various other atypical physical features. With 19 people reported to have the same genetic diagnosis and physical features, a PACS1-associated syndrome can now be recognized.