Use of whole-exome sequencing for the diagnosis of atypical Birt-Hogg-Dubé syndrome

J Genet Genomics. 2014 Aug 20;41(8):449-51. doi: 10.1016/j.jgg.2014.06.005. Epub 2014 Jun 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Birt-Hogg-Dube Syndrome / diagnosis*
  • Birt-Hogg-Dube Syndrome / genetics*
  • Cysts / genetics
  • Exome / genetics*
  • Female
  • Humans
  • Lung Diseases / genetics
  • Male
  • Molecular Diagnostic Techniques / methods*
  • Mutation
  • Sequence Analysis, DNA*