Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

Lignende værker

• Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
  af: Liskova, Petra, et al.
  Udgivet: (2016)
• Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
  af: Dudakova, Lubica, et al.
  Udgivet: (2020)
• Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
  af: Liskova, Petra, et al.
  Udgivet: (2018)
• Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
  af: Pavlina Skalicka, et al.
  Udgivet: (2020-06-01)
• Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent
  af: Dudakova, Lubica, et al.
  Udgivet: (2015)