| 概要 |
White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease. DDB1 is part of the CUL4-DDB1 ubiquitin E3 ligase complex, which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction.
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| 著者 |
White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD |
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