Cardiovascular findings in duplication 17p11.2 syndrome

Purpose: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities. Methods: Twenty-five subjects with 17p11.2 duplication identified by chromosome ana...

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Veröffentlicht in:	Genetics in medicine 2012-01, Vol.14 (1), p.90-94
Hauptverfasser:	Jefferies, John L., Pignatelli, Ricardo H., Martinez, Hugo R., Robbins-Furman, Patricia J., Liu, Pengfei, Gu, Wenli, Lupski, James R., Potocki, Lorraine
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Adolescent Adult Biomedical and Life Sciences Biomedicine Cardiovascular Abnormalities - genetics Child Child, Preschool Chromosome Disorders Chromosome Duplication Comparative Genomic Hybridization Electrocardiography Female Gene Order Human Genetics Humans Laboratory Medicine Male original-research-article Smith-Magenis Syndrome - diagnosis Smith-Magenis Syndrome - genetics Young Adult
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