Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease

Ítems similars

• The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
  per: Ducroq, Dominique, et al.
  Publicat: (2002)
• Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene
  per: Fu, Leming, et al.
  Publicat: (2021)
• ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
  per: Kitiratschky, Veronique B.D., et al.
  Publicat: (2008)
• Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
  per: Maugeri, Alessandra, et al.
  Publicat: (2000)
• An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
  per: Michaelides, M, et al.
  Publicat: (2004)