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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

ContributorsInternational Chromosome 22q11.2 Consortium; Brain and Behavior Consortium
CollaboratorsGuo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M; Chung, Jonathan H; Nomaru, Hiroko; Schneider, Maude; Eliez, Stéphan; Antonarakis, Stylianos
Published inCirculation: Cardiovascular Genetics, vol. 10, no. 5
Publication date2017
Abstract

The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort.

Citation (ISO format)
International Chromosome 22q11.2 Consortium, Brain and Behavior Consortium. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. In: Circulation: Cardiovascular Genetics, 2017, vol. 10, n° 5. doi: 10.1161/CIRCGENETICS.116.001690
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ISSN of the journal1942-325X
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