Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations

Am J Med Genet A. 2007 Jun 1;143A(11):1249-52. doi: 10.1002/ajmg.a.31738.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Fetal Death / enzymology*
  • Fetal Death / genetics*
  • Fetus / enzymology
  • Gestational Age
  • Heterozygote*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation / genetics*
  • Noonan Syndrome / enzymology*
  • Noonan Syndrome / genetics*
  • Pregnancy
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*
  • Ultrasonography, Prenatal

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases