🚨New paper alert🚨
After 40+ years of diagnostic uncertainty, we cracked the case!
rdcu.be/eiLAg
In an individual with Senior-Løken syndrome, traditional tests failed to identify a genetic cause. By combining #OGM and #LRS, we uncovered a hidden intronic mobile element insertion in IQCB1 (1/2).
rdcu.be
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
npj Genomic Medicine - Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome