Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism

Clin Genet. 2005 Aug;68(2):190-1. doi: 10.1111/j.1399-0004.2005.00475.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Cherubism / diagnosis*
  • Cherubism / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*

Substances

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