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GATA4Mutations in Chinese Patients with Congenital Cardiac Septal Defects

โœ Scribed by Ming-wu Chen; Yu-sheng Pang; Ying Guo; Jia-hua Pan; Bing-li Liu; Jie Shen; Tang-wei Liu


Publisher
Springer
Year
2009
Tongue
English
Weight
264 KB
Volume
31
Category
Article
ISSN
0172-0643

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Jagged1 mutations in patients ascertaine
โœ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB ๐Ÿ‘ 2 views

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosi