Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4

J Med Genet. 2001 Jun;38(6):E18. doi: 10.1136/jmg.38.6.e18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 4*
  • Ellis-Van Creveld Syndrome / genetics*
  • Female
  • Humans
  • Mutagenesis, Insertional
  • Polymorphism, Genetic
  • Tandem Repeat Sequences