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Table 1 Frequency and spectrum of CTD patients

From: Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Cardiac defects Number Percentage
TOF 85 43.59
DORV 45 23.08
PA/VSD 28 14.36
TGA 30 15.38
IAA 5 2.56
PTA 2 1.03
Total 195 100
  1. TOF, tetralogy of Fallot; DORV, double outlet right ventricle; PA/VSD, pulmonary atresia with ventricular septal defect; TGA, transposition of the great arteries; IAA, interrupted aortic arch; PTA, persistent truncus arteriosus
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172