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

Authors :: Saitta SC
McGrath JM
Mensch H
Shaikh TH
Zackai EH
Emanuel BS
Source :: American journal of human genetics [Am J Hum Genet] 1999 Aug; Vol. 65 (2), pp. 562-6.
Publication Year :: 1999

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

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