Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

BACKGROUND: 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 b...

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Main Authors: Bondy, Carolyn, Bakalov, Vladimir K, Cheng, Clara, Olivieri, Laura, Rosing, Douglas R, Arai, Andrew E
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2013
Assuntos:
Developmental Defects
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3786649/
https://ncbi.nlm.nih.gov/pubmed/23825392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101720
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