Fig. 1
From: The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
Genetic variants reported by survey participants (N = 41). A Types of genetic variants reported in patients diagnosed with Pierpont Syndrome (n = 18) compared to those without a Pierpont diagnosis (n = 23). Genetic information was not provided for 9 subjects. B Location of missense variants (red) and in-frame deletions (blue) in the TBL1XR1 gene reported by survey participants. Recurrent sites are denoted by increased size of the “lollipop” circle. All missense variants (n = 20) and in-frame deletions (n = 3) reported by survey participants occurred in WD40 repeat regions