Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

Am J Med Genet A. 2006 Aug 1;140(15):1681-3. doi: 10.1002/ajmg.a.31315.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Proto-Oncogene Proteins B-raf / genetics*
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics*
  • Syndrome

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf