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Table 4 Reported Kleefstra syndrome cases classified by congenital heart defects complexity

From: Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights

 

Simple CHD

Complex CHD

Unclassified*

9q34.3 deletion

19

20

12

 ≥ 1 Mb

3

12

3

 < 1 Mb

12

2

5

 Unknown

4

6

4

EHMT1 mutation

6

0

9

Not described

0

0

1

  1. *Unclassified: reported cases that did not provide detailed information on cardiac defects or only had arrhythmias or cardiomyopathy, thus making it impossible to classify them based on the CHD complexity. CHD, congenital heart defects
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BMC Cardiovascular Disorders

ISSN: 1471-2261

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