SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Carrier Proteins / genetics*
  • Craniofacial Abnormalities / pathology
  • DNA Mutational Analysis
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / pathology
  • Male
  • Mutation*
  • Nails, Malformed / pathology
  • Nuclear Proteins / genetics*
  • Thailand

Substances

  • Carrier Proteins
  • Nuclear Proteins
  • SETBP1 protein, human

Supplementary concepts

  • Schinzel-Giedion syndrome