A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Susan M. White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M.A. Lachmeijer, Aren E. Marshall, Kym M. Boycott, Dong Li, Wendy E. Smith, Taila Hartley, Arran McBride, Michelle Ernst, Alison S. May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch‐Hogrebe, Katrin Õunap, Sander Pajusalu, Koen L.I. van Gassen, Simon Sadedin, Sara Ellingwood, Tiong Yang Tan, John Christodoulou, Jaime Barea, Paul J. Lockhart, Marjan M. Nezarati, Kristin D. Kernohan
Topics & Concepts
DDB1BiologyUbiquitin ligaseDNA repairGeneticsHypotoniaPhenotypeDNA damageUbiquitinDNAGeneGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesDNA Repair Mechanisms