Trisomy X syndrome with dystonia and a pathogenic SATB1 variant

Neurol Sci. 2021 Sep;42(9):3883-3884. doi: 10.1007/s10072-021-05320-0. Epub 2021 May 24.
No abstract available

Publication types

  • Letter

MeSH terms

  • Chromosomes, Human, X
  • Dystonia* / genetics
  • Humans
  • Matrix Attachment Region Binding Proteins* / genetics
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development*
  • Trisomy / genetics

Substances

  • Matrix Attachment Region Binding Proteins
  • SATB1 protein, human

Supplementary concepts

  • Triple X syndrome