Char Syndrome and TFAP2B Mutations
Bruce D. Gelb
Search for more papers by this authorBruce D. Gelb
Search for more papers by this authorD. Woodrow Benson MD, PhD
Professor of Pediatrics, Director, Cardiovascular Genetics, Division of Cardiology, Cincinnati Children's Hospital Medical Center
Search for more papers by this authorDeepak Srivastava MD
Pogue Distinguished Chair in Research on Cardiac Birth Defects, Joel B. Steinberg, M.D. Chair in Pediatrics Professor, Departments of Pediatrics and Molecular Biology, University of Texas, Southwestern Medical Center at Dallas
Search for more papers by this authorMakoto Nakazawa MD
Professor and Head, Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical University
Search for more papers by this authorSummary
This chapter contains sections titled:
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Clinical description of Char syndrome
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Genetic mapping and disease gene discovery
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Tfap2b and its protein product
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Molecular pathology of Char syndrome
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Genotype/phenotype correlation
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