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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