机译:A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Inst Genom Med,Columbia Univ;
Dept Neurol,Columbia Univ;
Univ Klinikum Dusseldorf,Heinrich Heine Univ DusseldorfInst Human Genet,Univ Med Ctr LeipzigDept Clin Genet,Tartu Univ HospDiv Labs Pharm & Biomed Genet,Univ Med Ctr UtrechtVictorian Clin Genet Serv,Murdoch Childrens Res InstDept Paediat,Maine Med CtrDept Paediat,Univ MelbourneRady Childrens Specialists San DiegoNorth York Gen HospChildrens Hosp,Univ OttawaVest Kinder & Jugendklin Datteln,Univ Witten HerdeckeChildrens Hosp PhiladelphiaNuffield Dept Womens & Reprod Hlth,Univ Oxford;
UBIQUITIN LIGASE; METHYLATION; ADIPOSE; DAMAGE; WDTC1; GENE;