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Other Names for this Disease
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
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patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called
Last updated: 9/15/2011
- Char syndrome. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/char-syndrome. Accessed 9/15/2011.
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- Genetics Home Reference (GHR) contains information on Char syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Char syndrome. Click on the link to view a sample search on this topic.