Delineating the expanding phenotype associated with SCAPER gene mutation

Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins / genetics*
  • Child
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype*
  • Young Adult

Substances

  • Carrier Proteins
  • SCAPER protein, human