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Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes

✍ Scribed by S. Eliez; F. Palacio-Espasa; A. Spira; M. Lacroix; C. Pont; F. Luthi; C. Robert-Tissot; C. Feinstein; D. F. Schorderet; S. E. Antonarakis; B. Cramer


Book ID
106237521
Publisher
Springer
Year
2000
Tongue
English
Weight
77 KB
Volume
9
Category
Article
ISSN
1018-8827

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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