RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

Clin Genet. 2014 Jan;85(1):96-9. doi: 10.1111/cge.12122. Epub 2013 Mar 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Coffin-Lowry Syndrome / diagnosis*
  • Coffin-Lowry Syndrome / genetics*
  • Facies
  • Female
  • Humans
  • Male
  • Mutation*
  • Nondisjunction, Genetic*
  • Pedigree
  • Phenotype*
  • Ribosomal Protein S6 Kinases, 90-kDa / genetics*

Substances

  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3