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

Journal of Medical Genetics

Volumn 50, Issue 10, 2013, Pages 662-665

  Bondy, Carolyn ^a   Bakalov, Vladimir K ^a   Cheng, Clara ^a   Olivieri, Laura ^b   Rosing, Douglas R ^b   Arai, Andrew E ^b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA COARCTATION; ARTICLE; BICUSPID AORTIC VALVE; CARDIOVASCULAR MAGNETIC RESONANCE; CARDIOVASCULAR MALFORMATION; CHROMOSOME 14Q; CHROMOSOME DELETION X; EXON; FEMALE; GENE LOCUS; HAPLOINSUFFICIENCY; HUMAN; KARYOTYPE; KARYOTYPE 45,X; MAJOR CLINICAL STUDY; METAPHASE; PRIORITY JOURNAL; PULMONARY VEIN MALFORMATION; SHORT STATURE; TURNER SYNDROME;

ANEUPLOIDY; CHROMOSOMAL; CONGENITAL HEART DISEASE; DEVELOPMENTAL;

AORTIC COARCTATION; AORTIC VALVE; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, X; FEMALE; HEART DEFECTS, CONGENITAL; HEART VALVE DISEASES; HUMANS; KARYOTYPE; PHENOTYPE; PREVALENCE; PULMONARY VEINS; TRANSLOCATION, GENETIC; TURNER SYNDROME;

EID: 84890249510     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101720     Document Type: Article

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