A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy

To investigate the frequency of genetic diagnoses among infants with critical congenital heart disease (CHD) using a comprehensive cardiovascular genetics approach and to identify genotype–phenotype correlations. A retrospective chart review of patients evaluated by cardiovascular genetics in a pedi...

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Veröffentlicht in:The Journal of pediatrics 2020-12, Vol.227, p.231-238.e14
Hauptverfasser: Shikany, Amy R., Landis, Benjamin J., Parrott, Ashley, Miller, Erin M., Coyan, Alyxis, Walters, Lauren, Hinton, Robert B., Goldenberg, Paula, Ware, Stephanie M.
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Sprache:eng
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Zusammenfassung:To investigate the frequency of genetic diagnoses among infants with critical congenital heart disease (CHD) using a comprehensive cardiovascular genetics approach and to identify genotype–phenotype correlations. A retrospective chart review of patients evaluated by cardiovascular genetics in a pediatric cardiac intensive care unit from 2010 to 2015 was performed. Infants with CHD who were
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2020.07.065