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Int J Cardiol. 2016 Jan 15;203:516-8. doi: 10.1016/j.ijcard.2015.10.216. Epub 2015 Oct 29.

Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.

Author information

1
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
2
The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; The Labatt Family Heart Centre, The Hospital For Sick Children, Toronto, Ontario, Canada.
3
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
4
The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada. Electronic address: candice.silversides@uhn.ca.
5
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Toronto Congenital Cardiac Centre for Adults and Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, Toronto General Research Institute and The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address: anne.bassett@utoronto.ca.

KEYWORDS:

15q11.2; CACNA1C; Congenital heart disease; Copy number variation; Genetic testing; Timothy syndrome

PMID:
26551885
DOI:
10.1016/j.ijcard.2015.10.216
[Indexed for MEDLINE]

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