Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation

Clin Genet. 2005 May;67(5):446-7. doi: 10.1111/j.1399-0004.2005.00436.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Dosage Compensation, Genetic*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype

Substances

  • Carrier Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • PQBP1 protein, human