A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male

Am J Med Genet A. 2012 May;158A(5):1221-4. doi: 10.1002/ajmg.a.35293. Epub 2012 Apr 9.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • DNA Methylation
  • Female
  • Fragile X Syndrome / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Siblings