Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

Mol Med Today. 2000 Jan;6(1):10-1. doi: 10.1016/s1357-4310(99)01577-4.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Animals
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / pathology
  • Genetic Variation
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Penetrance
  • Phenotype
  • Proteins / genetics*
  • Species Specificity

Substances

  • Adaptor Proteins, Vesicular Transport
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • UFD1 protein, human
  • Ufd1 protein, mouse

Grants and funding