Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor

Am J Med Genet A. 2009 May;149A(5):1067-9. doi: 10.1002/ajmg.a.32775.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / surgery
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Infant
  • Oligonucleotide Array Sequence Analysis
  • Rhabdoid Tumor / diagnosis
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / surgery
  • SMARCB1 Protein
  • Syndrome
  • Teratoma / diagnosis
  • Teratoma / genetics*
  • Teratoma / surgery
  • Transcription Factors / genetics*

Substances

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