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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Bondy, Carolyn, Bakalov, Vladimir K, Cheng, Clara, Olivieri, Laura, Rosing, Douglas R, Arai, Andrew E
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2013
Gaiak:
Developmental Defects
Sarrera elektronikoa: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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