Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
Eur J Hum Genet
.
2010 Sep;18(9).
doi: 10.1038/ejhg.2010.5.
Epub 2010 Feb 3.
Authors
Eberhard Schwinger
1
,
Koen Devriendt
,
Anita Rauch
,
Nicole Philip
Affiliation
1
Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany. schwing@uni-luebeck.de
PMID:
20125192
PMCID:
PMC2987430
DOI:
10.1038/ejhg.2010.5
No abstract available
Publication types
Research Support, Non-U.S. Gov't
MeSH terms
Chromosome Deletion*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome / diagnosis
DiGeorge Syndrome / genetics*
Humans
Sensitivity and Specificity