De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

被引：0
|
作者：
Steven C Greenway
Alexandre C Pereira
Jennifer C Lin
Steven R DePalma
Samuel J Israel
Sonia M Mesquita
Emel Ergul
Jessie H Conta
Joshua M Korn
Steven A McCarroll
Joshua M Gorham
Stacey Gabriel
David M Altshuler
Maria de Lourdes Quintanilla-Dieck
Maria Alexandra Artunduaga
Roland D Eavey
Robert M Plenge
Nancy A Shadick
Michael E Weinblatt
Philip L De Jager
David A Hafler
Roger E Breitbart
Jonathan G Seidman
Christine E Seidman
机构：
[1] Harvard Medical School,Department of Genetics
[2] Laboratory of Genetics and Molecular Cardiology,Department of Cardiology
[3] Heart Institute,Department of Otology and Laryngology
[4] University of São Paulo Medical School,Division of Rheumatology
[5] Children's Hospital,Department of Neurology
[6] The Broad Institute of Harvard and MIT,Cardiovascular Division
[7] Massachusetts Eye & Ear Infirmary,undefined
[8] Immunology and Allergy,undefined
[9] Brigham and Women's Hospital,undefined
[10] Brigham and Women's Hospital,undefined
[11] Brigham and Women's Hospital,undefined
来源：
Nature Genetics | 2009年 / 41卷
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摘要：
Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome 1q21.1. They also report copy number changes at other loci that likely contribute to the etiology of this congenital heart malformation.
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页码：931 / 935
页数：4
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