Clinical features of type 2 Stickler syndrome

Lignende værker

• Auditory dysfunction in type 2 Stickler Syndrome
  af: Alexander, Philip, et al.
  Udgivet: (2020)
• COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
  af: Richards, A., et al.
  Udgivet: (2000)
• Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
  af: Snead, M P, et al.
  Udgivet: (2011)
• Clinical and molecular genetics of Stickler syndrome
  af: Snead, M., et al.
  Udgivet: (1999)
• Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
  af: Richards, Allan J, et al.
  Udgivet: (2013)