Cardiovascular findings in duplication 17p11.2 syndrome

Genetics in Medicine

Volumn 14, Issue 1, 2012, Pages 90-94

  Jefferies, John L ^a,b   Pignatelli, Ricardo H ^a   Martinez, Hugo R ^a   Robbins Furman, Patricia J ^c   Liu, Pengfei ^c   Gu, Wenli ^c   Lupski, James R ^a,c   Potocki, Lorraine ^c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b ST LUKE S EPISCOPAL HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

chromosome 17p duplication; congenital heart defects; dilated aortic root; Potocki Lupski syndrome; PTLS; vasculopathy

Indexed keywords

ADOLESCENT; ADULT; AORTA ROOT; AORTA VALVE DISEASE; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; FOLLOW UP; HEART ATRIUM SEPTUM DEFECT; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MALE; PATENT FORAMEN OVALE; PHYSICAL EXAMINATION;

EID: 85028100693     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.0b013e3182329723     Document Type: Article

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