Login / Signup

Exome sequencing in families with chronic central serous chorioretinopathy.

Rosa L SchellevisElon H C Van DijkMyrte B BreukinkJan E E KeunenGijs W E SantenCarel B HoyngEiko K de JongCamiel J F BoonAnneke I den Hollander
Published in: Molecular genetics & genomic medicine (2019)
We identified potential candidate genes for familial CSC and managed to exclude Mendelian inheritance of variants in one or a limited number of genes. Instead, familial CSC may be a heterogeneous Mendelian disease caused by variants in many different genes, or alternatively CSC may represent a complex disease to which both environmental factors and genetics contribute.
Keyphrases
  • copy number
  • genome wide
  • mitochondrial dna
  • early onset
  • high grade
  • genome wide identification
  • single cell
  • bioinformatics analysis
  • dna methylation
  • risk assessment