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Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

โœ Scribed by Amati, Francesca; Conti, Emanuela; Novelli, Antonio; Bengala, Mario; Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Gabrielli, Orazio; Novelli, Giuseppe; Dallapiccola, Bruno


Book ID
110024897
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
416 KB
Volume
7
Category
Article
ISSN
1018-4813

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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