Login / Signup

Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.

Wei ShenB A YoungM BosworthK E WrightA N LambY Ji
Published in: Clinical genetics (2018)
Keyphrases
  • pregnant women
  • loop mediated isothermal amplification
  • case report
  • label free
  • copy number