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Introduction: Advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome

โœ Scribed by Wendy R. Kates; Beverly S. Emanuel


Publisher
Wiley (John Wiley & Sons)
Year
2008
Tongue
English
Weight
53 KB
Volume
14
Category
Article
ISSN
1940-5510

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โœ Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S. Bassett; ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 611 KB

Haploinsufficiency of TBX1, encoding a Tbox transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge /22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whethe