| 概要 |
RECON progeroid syndrome (RECON) is a novel genome instability disorder. The affected individuals have short stature, progeroid facial features, a hypoplastic nose, xeroderma, and skin photosensitivity. It has been reported that the same missense mutation in RECQL causes this syndrome. RECQL is a member of the RecQ family of helicases.
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| 著者 |
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 |
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