| 概要 |
Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. KAT8 encodes lysine acetyltransferase 8, that is critical for acetylation of histone H4 at lysine 16.
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| 著者 |
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ |
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