Clinical utility gene card for: Rothmund-Thomson syndrome

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28.
No abstract available

MeSH terms

  • Genetic Testing
  • Humans
  • Mutation
  • RecQ Helicases / genetics*
  • Rothmund-Thomson Syndrome / diagnosis*
  • Rothmund-Thomson Syndrome / genetics*
  • Rothmund-Thomson Syndrome / pathology

Substances

  • RECQL4 protein, human
  • RecQ Helicases