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Title

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theGPR98Locus on 5q14.3

Authors
Guo, Tingwei
Repetto, Gabriela M
McDonald McGinn, Donna M
Chung, Jonathan H
Nomaru, Hiroko
Campbell, Christopher L
Blonska, Anna
Bassett, Anne S
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Published in Circulation: Cardiovascular Genetics. 2017, vol. 10, no. 5
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.
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PMID: 29025761
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Article (Published version) (5.5 MB) - public document Free access
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Research group Laboratoire d'imagerie et de psychopathologie développementale (693)
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GUO, Tingwei et al. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theGPR98Locus on 5q14.3. In: Circulation: Cardiovascular Genetics, 2017, vol. 10, n° 5. https://archive-ouverte.unige.ch/unige:102591

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Deposited on : 2018-02-28

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