Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Lignende værker

• Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
  af: Lin, Ying, et al.
  Udgivet: (2018)
• Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma
  af: Li, Tao, et al.
  Udgivet: (2017)
• Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
  af: Lin, Ying, et al.
  Udgivet: (2018)
• Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome
  af: Öztürk, Caner, et al.
  Udgivet: (2018)
• Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome
  af: Caner Öztürk, et al.
  Udgivet: (2018-04-01)