Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Lignende værker

• Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus
  af: Lechner, Judith, et al.
  Udgivet: (2014)
• 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)
• Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness
  af: Lu, Yi, et al.
  Udgivet: (2010)
• Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
  af: Abu, Almogit, et al.
  Udgivet: (2008)
• ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
  af: Rohrbach, Marianne, et al.
  Udgivet: (2013)