Clinical utility gene card for: 16p12.2 microdeletion

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis Regulatory Proteins / genetics
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 16 / genetics
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Electron Transport Complex III / genetics
  • Elongation Factor 2 Kinase / genetics
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Mental Disorders / diagnosis
  • Mental Disorders / genetics
  • Nerve Tissue Proteins / genetics
  • RNA Polymerase III / genetics

Substances

  • Apoptosis Regulatory Proteins
  • CDR2 protein, human
  • Nerve Tissue Proteins
  • EEF2K protein, human
  • Elongation Factor 2 Kinase
  • POLR3E protein, human
  • RNA Polymerase III
  • Electron Transport Complex III

Supplementary concepts

  • Fragile Site 16p12