Candidate gene analysis in three families with acilia syndrome

Am J Med Genet A. 2008 Jul 1;146A(13):1765-7. doi: 10.1002/ajmg.a.32340.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Axonemal Dyneins
  • Cilia / pathology
  • Consanguinity
  • DNA Mutational Analysis
  • Dyneins / genetics
  • Female
  • Forkhead Transcription Factors / genetics
  • Humans
  • Kartagener Syndrome / classification
  • Kartagener Syndrome / genetics*
  • Male
  • Pedigree
  • Syndrome

Substances

  • DNAI1 protein, human
  • FOXJ1 protein, human
  • Forkhead Transcription Factors
  • Axonemal Dyneins
  • DNAH5 protein, human
  • Dyneins