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Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region

✍ Scribed by Elizabeth Goldmuntz; Jason Fedon; Bruce Roe; Marcia L Budarf

Book ID
117522601
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
227 KB
Volume
198
Category
Article
ISSN
0378-1119

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Patient with a 22q11.2 deletion with no
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
✍ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 3 views

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini