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Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings

โœ Scribed by Petya D Radoeva, Ioana L Coman, Kevin M Antshel, Wanda Fremont, Christopher S McCarthy, Ashwini Kotkar, Dongliang Wang, Robert J Shprintzen, Wendy R Kates


Book ID
119909443
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
310 KB
Volume
8
Category
Article
ISSN
1744-9081

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Genotype and cardiovascular phenotype co
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