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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Elizabeth E BlueKristin J MooreKari E NorthTania A DesrosiersSuzan L CarmichaelJanson J WhiteJessica X ChongMichael J BamshadMary M JenkinsLynn M AlmliLawrence C BrodySharon F FreedmanJennita ReefhuisPaul A RomittiGary M ShawMartha WerlerDenise M KayMarilyn L BrowneMarcia L FeldkampRichard H FinnellWendy N NembhardFaith PangilinanAndrew F Olshannull nullnull nullnull null
Published in: Birth defects research (2024)
Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.
Keyphrases
  • genome wide
  • bioinformatics analysis
  • genome wide identification
  • copy number
  • dna methylation
  • genome wide analysis
  • pregnant women
  • optic nerve