Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han

Int J Cardiol. 2014 Jul 1;174(3):e101-4. doi: 10.1016/j.ijcard.2014.04.161. Epub 2014 Apr 22.
No abstract available

Keywords: Leopard syndrome; Missense; Mutation; Sporadic.

Publication types

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

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • Cysteine / genetics*
  • Heterozygote
  • Humans
  • LEOPARD Syndrome / diagnosis
  • LEOPARD Syndrome / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
  • Tyrosine / genetics*

Substances

  • Tyrosine
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Cysteine