| 概要 |
Shukla-Vernon syndrome (SHUVER) is a new X-linked syndrome characterized by variable degrees of intellectual disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein complexes including class II histone deacetylases.
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| 著者 |
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP |
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| 著者 |
Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ |
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