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. 2021 Nov 12;12(11):1791. doi: 10.3390/genes12111791

Table 1.

Summary of clinical features of the PTK7 variant carriers.

Patient Number Variant Gender Age of Onset Diagnosis Vertebral Malformations Other skeletal Malformations or Deformities Cardiac Abnormalities Spinal Canal Deformities Visceral Abnormalities
SCO1905P0038 c.464_465delAC M 13 CS T12 butterfly vertebra, T9-T10 failure of segmentation None None None None
SCO2003P2127 c.1394A>G F 21 CS None Fusion of 4th and 5th ribs, 12th ribs absent Postoperative of patent ductus arteriosus None None
SCO2003P0372 c.1879G>A F 8 CS L2 Hemivertebra, L2-L3 fusion None None None None
SCO1908P0053 c.1955G>T F 1 CS T11, T12 segmented wedge vertebrae None None None None
SCO2003P0541 c.1955G>T F 7 CS T7-T11 failure of segmentation Chest deformity None Diastematomyelia None
SCO1907P0150 c.49C>T F 11 AIS None None Ventricular septal defect None None
SCO2003P0632 c.353C>T F 12 AIS None None None None None
SCO2003P2288 c.2290G>A F 14 AIS None None None None None
SCO2003P2237 c.2384G>A F 13 AIS None None None None None

M, male; F, female; CS, congenital scoliosis; AIS, adolescent idiopathic scoliosis.