Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

Br J Haematol. 2019 Jul;186(2):373-376. doi: 10.1111/bjh.15886. Epub 2019 Mar 25.
No abstract available

Keywords: copy number variant analysis; inherited thrombocytopenia; whole exome sequencing.

Publication types

  • Clinical Trial
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • DNA Copy Number Variations*
  • Female
  • Genetic Diseases, Inborn* / diagnosis
  • Genetic Diseases, Inborn* / genetics
  • Genotyping Techniques*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Thrombocytopenia* / diagnosis
  • Thrombocytopenia* / genetics