RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
Bassam Abu‐Libdeh(Al-Quds University), Grant S. Stewart(University of Birmingham)
Cited by 42
Related Papers
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
|Nature Communications|2022|41
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
|Brain|2023|18
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin
|Nature Communications|2025|1