Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

Acta Neuropathol. 2014 Sep;128(3):449-52. doi: 10.1007/s00401-014-1311-1. Epub 2014 Jul 10.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomes, Human, Pair 22 / genetics
  • Cohort Studies
  • DNA-Binding Proteins / genetics*
  • Exome
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Neurilemmoma / genetics*
  • Neurofibromatoses / genetics*
  • Neurofibromatosis 2 / genetics
  • SMARCB1 Protein
  • Sequence Analysis
  • Skin Neoplasms / genetics*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • LZTFL1 protein, human
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors

Supplementary concepts

  • Schwannomatosis