Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

Clin Dysmorphol. 2012 Oct;21(4):212-214. doi: 10.1097/MCD.0b013e3283557231.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation / genetics*
  • Neurofibromatosis 1 / genetics*
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics*