| 概要 |
Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by intellectual disability and developmental delay, including speech impairment. It has been reported that mutations in MED12L cause this disease. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Mediator complex is a key regulator of gene expression involved in cell growth, homeostasis, development, and differentiation.
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| 著者 |
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gerard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bezieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B |
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