Clinical phenotypes of MAGEL2 mutations and deletions

Orphanet J Rare Dis. 2014 Mar 25:9:40. doi: 10.1186/1750-1172-9-40.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 15
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Promoter Regions, Genetic
  • Proteins / genetics*

Substances

  • MAGEL2 protein, human
  • Proteins