Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A JurgensBrenda J BarryWai-Man ChanSarah MacKinnonMary C WhitmanPaola M Matos RuizBrandon M PrattEleina M EnglandLynn PaisGabrielle LemireEmily GroopmanCarmen GlazeKathryn A RussellMoriel Singer-BerkSilvio Alessandro Di GioiaArthur S LeeCaroline AndrewsSherin ShaabanMegan M WirthSarah BekeleMelissa ToffoloniVictoria R BradfordEmma E FosterLindsay BerubeCristina Rivera-QuilesFiona M MenschingAlba Sanchis-JuanJack M FuIsaac WongXuefang ZhaoMichael W WilsonBen WeisburdMonkol Leknull nullHarrison BrandMichael E TalkowskiDaniel G MacArthurAnne H O'Donnell-LuriaCaroline D RobsonDavid G HunterElizabeth C EnglePublished in: medRxiv : the preprint server for health sciences (2024)
This study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.