Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).
Schwinger
Eberhard
E
Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany. schwing@uni-luebeck.de
Devriendt
Koen
K
Rauch
Anita
A
Philip
Nicole
N
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D012680:Sensitivity and Specificity