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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

โœ Scribed by Gelb, Bruce D.; Satoda, Masahiko; Zhao, Feng; Diaz, George A.; Burn, John; Goodship, Judith; Davidson, H. Rosemarie; Pierpont, Mary Ella M.


Book ID
109828223
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
413 KB
Volume
25
Category
Article
ISSN
1061-4036

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Familial patent ductus arteriosus: A fur
โœ Slavotinek, Anne; Clayton-Smith, Jill; Super, Maurice ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 2 views

We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and ''duckbill lips,'' polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provide further evidence for evolution of the phenotype wi