A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
Saitta
S C
SC
McGrath
J M
JM
Mensch
H
H
Shaikh
T H
TH
Zackai
E H
EH
Emanuel
B S
BS
D033942:Adaptor Proteins, Vesicular Transport; D018797:Cell Cycle Proteins / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D033942:Adaptor Proteins, Vesicular Transport; C113571:CDC45 protein, human; C491876:Cdc45 protein, mouse; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human