Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Abstract
Background null Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. null Design null We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on...
Paper Details
Title
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Published Date
Oct 1, 2013
Journal
Volume
50
Issue
10
Pages
662 - 665
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