Clinical utility gene card for: deletion 22q13 syndrome

Eur J Hum Genet. 2011 Apr;19(4). doi: 10.1038/ejhg.2010.193. Epub 2010 Dec 8.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 22 / genetics*
  • Genetic Testing
  • Humans
  • Monosomy / diagnosis
  • Monosomy / genetics*
  • Nerve Tissue Proteins

Substances

  • Carrier Proteins
  • Nerve Tissue Proteins
  • SHANK3 protein, human

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome