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Velo-cardio-facial syndrome: Frequency and extent of 22q1l deletions

โœ Scribed by Lindsay, Elizabeth A. ;Goldberg, Rosalie ;Jurecic, Vesna ;Morrow, Bernice ;Carlson, Christine ;Kucherlapati, Raju S. ;Shprintzen, Robert J. ;Baldini, Antonio


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
622 KB
Volume
57
Category
Article
ISSN
0148-7299

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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