RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS.
Abu-Libdeh B, et al. Among authors: smerdon sj.
J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301.
J Clin Invest. 2022.
PMID: 35025765
Free PMC article.