Fragile X syndrome phenotype with normal FMR1 gene studies

Am J Med Genet A. 2004 Sep 1;129A(3):326-8. doi: 10.1002/ajmg.a.30194.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Blotting, Southern
  • Child
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / pathology*
  • Gene Expression
  • Hair Follicle / metabolism
  • Humans
  • Lymphocytes / metabolism
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Phenotype*
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • Sequence Analysis, DNA

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein