A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

Adaptor Proteins, Vesicular Transport Cell Cycle Proteins/genetics Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 22/genetics Craniofacial Abnormalities/genetics Humans Intracellular Signaling Peptides and Proteins Male Molecular Sequence Data Phenotype Proteins/genetics Syndrome

Adaptor Proteins, Vesicular Transport CDC45 protein, human Cdc45 protein, mouse Cell Cycle Proteins Intracellular Signaling Peptides and Proteins Proteins UFD1 protein, human