Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Ítems similars

• Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
  per: Arts, H, et al.
  Publicat: (2012)
• Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy
  per: Lehman, A.M., et al.
  Publicat: (2010)
• ASPHYXIATING THORACIC DYSTROPHY
  per: CHANDAR, VIPAN, et al.
  Publicat: (1998)
• Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
  per: Schmidts, Miriam, et al.
  Publicat: (2013)
• TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
  per: Schmidts, Miriam, et al.
  Publicat: (2015)