Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

समान संसाधन

• IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
  द्वारा: Zhang, Wenjuan, और अन्य
  प्रकाशित: (2016)
• Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
  द्वारा: Merrill, Amy E., और अन्य
  प्रकाशित: (2009)
• Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
  द्वारा: Duran, Ivan, और अन्य
  प्रकाशित: (2016)
• Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
  द्वारा: Duran, Ivan, और अन्य
  प्रकाशित: (2017)
• Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
  द्वारा: Badiner, N., और अन्य
  प्रकाशित: (2017)