Crisponi syndrome: a new case with additional features and new mutation in CRLF1

Am J Med Genet A. 2008 Dec 15;146A(24):3237-9. doi: 10.1002/ajmg.a.32531.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Receptors, Cytokine / genetics*
  • Syndrome

Substances

  • Receptors, Cytokine
  • cytokine-like factor-1