Clinical utility gene card for: poikiloderma with neutropenia

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.298. Epub 2013 Jan 16.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16 / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Neutropenia / diagnosis
  • Neutropenia / epidemiology
  • Neutropenia / genetics*
  • Open Reading Frames
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / epidemiology
  • Skin Abnormalities / genetics*

Supplementary concepts

  • Poikiloderma with Neutropenia