[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks]

Rev Neurol. 2015 Jul 16;61(2):94-6.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • English Abstract
  • Letter

MeSH terms

  • Child
  • Coffin-Lowry Syndrome / complications
  • Coffin-Lowry Syndrome / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Phenotype
  • Ribosomal Protein S6 Kinases, 90-kDa / genetics*
  • Syncope / etiology

Substances

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