An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome

Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Substitution
  • Cell Cycle Proteins / genetics*
  • Cerebellum / abnormalities*
  • Developmental Disabilities / genetics
  • Humans
  • Infant
  • Introns / genetics*
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • RNA Splice Sites / genetics
  • Syndrome

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins
  • RNA Splice Sites