Genetics and Biomarkers in Congenital Heart Disease. SSA Conference, November 9, 2010. Allen D. Everett, MD Associate Professor, Pediatric Cardiology Helen B. Taussig Children’s Congenital Heart Center. Translating Congenital Heart Disease for the Non-Cardiologist.
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Genetics and Biomarkers in Congenital Heart Disease
SSA Conference, November 9, 2010
Allen D. Everett, MD
Associate Professor, Pediatric Cardiology
Helen B. Taussig Children’s Congenital Heart Center
This is a difficult task but I hope to better than this translation:
Syndromic-Congenital heart disease associated with other defects such as brain, liver, etc. Uncommon, and tend to be single gene defects
Noonan’s (CHD, hematologic, neurologic) PTPN11
Alagille’s (CHD, liver disease) JAG1
Holt-Oram (CHD, skeletal defects) TBX5
Genetics of Congenital Heart Disease
MW Wessels and PJ Willems. Clin. Genetics, 2010 78:103
I hope my translation came out better than this: