PMC6385741_01
(A-D) Radiological imaging of Patient 1. Three-dimensional reformatted CT scan, frontal and lateral views, demonstrate fusion of both the right and the left coronal sutures.. Note: From the CT axial images, no brain parenchymal abnormalities were detected.. Abbreviation: CT, computed tomography.
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At the age of 4 months, three-dimensional computed tomography (3D-CT) scan of the cranium revealed synostosis of both right and left coronal sutures (Figure 1A-D). Patient 1 and her mother carried the same variant (c.1119delC/p.T373Tfs*23), whereas Patient 2 carried c.1836dupA/p.R613Tfs*5 (Figures S1 and S2).
Schematic representation of the TCF12 protein (HEBbeta). The location of the mutations is indicated with a red stripe. The p.T373Tfs*23 (Patient 1 and mother) is located within AD2, whereas the p.R613Tfs*5 (Patient 2) is located within bHLH domain.. Abbreviation: bHLH, base-helix-loop-helix.
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Patient 1 and her mother carried the same variant (c.1119delC/p.T373Tfs*23), whereas Patient 2 carried c.1836dupA/p.R613Tfs*5 (Figures S1 and S2).