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A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.

Kirk A J StephensonAdrian DockeryMichael O'KeefeAndrew GreenG Jane FarrarDavid J Keegan
Published in: Eye (London, England) (2019)
The FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to 'pathogenic' ACMG status.
Keyphrases
  • intellectual disability
  • genome wide
  • gene expression
  • dna methylation
  • autism spectrum disorder