"Unstable premutation" in achondroplasia: penetrance vs phenotrance

Am J Med Genet. 1984 Oct;19(2):251-4. doi: 10.1002/ajmg.1320190207.
No abstract available

Publication types

  • Case Reports
  • Editorial

MeSH terms

  • Achondroplasia / genetics*
  • Adult
  • Epistasis, Genetic
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Models, Genetic
  • Pedigree
  • Phenotype