Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion

Clin Neuropathol. 2014 May-Jun;33(3):238-44. doi: 10.5414/np300691.

Abstract

Letter to the Editor.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology*
  • Chromosomes, Human, Pair 11* / genetics
  • Exostoses, Multiple Hereditary / genetics*
  • Exostoses, Multiple Hereditary / pathology*
  • Humans
  • Male
  • Transcriptome*

Supplementary concepts

  • Potocki-Shaffer syndrome