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

Am J Hum Genet. 1999 Aug;65(2):562-6. doi: 10.1086/302514.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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

Substances

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

Associated data

  • OMIM/145410
  • OMIM/188400
  • OMIM/192430
  • OMIM/217095