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Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

โœ Scribed by Driscoll, Deborah A. ;Spinner, Nancy B. ;Budarf, Marcia L. ;McDonald-McGinn, Donna M. ;Zackai, Elaine H. ;Goldberg, Rosalie B. ;Shprintzen, Robert J. ;Saal, Howard M. ;Zonana, Jonathan ;Jones, Marilyn C. ;Mascarello, James T. ;Emanuel, Beverly S.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
578 KB
Volume
44
Category
Article
ISSN
0148-7299

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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