Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family

Những quyển sách tương tự

• “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”
  Bằng: Uysal, Fahrettin, et al.
  Được phát hành: (2017)
• Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
  Bằng: Seemann, Petra, et al.
  Được phát hành: (2005)
• A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2
  Bằng: Kjaer, K W, et al.
  Được phát hành: (2006)
• Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
  Bằng: Seo, Soo Hyun, et al.
  Được phát hành: (2013)
• Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.
  Bằng: Bähring, S, et al.
  Được phát hành: (1997)