Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Lignende værker

• IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
  af: Zhang, Wenjuan, et al.
  Udgivet: (2016)
• Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
  af: Duran, Ivan, et al.
  Udgivet: (2016)
• Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
  af: Taylor, S. Paige, et al.
  Udgivet: (2015)
• Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
  af: Badiner, N., et al.
  Udgivet: (2017)
• An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
  af: Paige Taylor, S., et al.
  Udgivet: (2016)