Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

Samankaltaisia teoksia

• Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
  Tekijä: Garnai, Sarah J., et al.
  Julkaistu: (2019)
• Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
  Tekijä: Othman, M I, et al.
  Julkaistu: (1998)
• Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
  Tekijä: Xiao, Xueshan, et al.
  Julkaistu: (2019)
• Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos
  Tekijä: Khorram, David, et al.
  Julkaistu: (2015)
• The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
  Tekijä: Siggs, Owen M, et al.
  Julkaistu: (2020)