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Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome

✍ Scribed by Joanna Maldonado-Saldivia; Birgit Funke; Raj K Pandita; Tanja Schüler; Bernice E Morrow; Hubert Schorle


Book ID
118601955
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
694 KB
Volume
96
Category
Article
ISSN
0925-4773

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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