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Great to see this 3y follow study published & with further delineation if this rare condition. congrats to Sara, Reza Maroofian and all

Back in 2013, we identified KPTN as a cause of NDD, though its function was unclear. By 2017, it was revealed as part of KICSTOR complex alongside KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next. cell.com/ajhg/fulltext/…

looking forward to #GRD25 and presenting our work "A palindrome associated duplication-triplication on 16p13.3 causes cerebellar atrophy and progressive ataxia"

Now with a nice quote from participant genomicsengland.co.uk/news/elusive-g… thanks to Genomics England comms for coordinating