MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Meng, LY; Isohanni, P; Shao, YR; Graham, BH; Hickey, SE; Brooks, S; Suomalainen, A; Joset, P; Steindl, K; Rauch, A; Hackenberg, A; High, FA; Armstrong-Javors, A; Mencacci, NE; Gonzalez-Latapi, P; Kamel, WA; Al-Hashel, JY; Bustos, BI; Hernandez, AV; Krainc, D; Lubbe, SJ; Van Esch, H; De Luca, C; Ballon, K; Ravelli, C; Burglen, L; Qebibo, L; Calame, DG; Mitani, T; Marafi, D; Pehlivan, D; Saadi, NW; Sahin, Y; Maroofian, R; Efthymiou, S; Houlden, H; Maqbool, S; Rahman, F; Gu, S; Posey, JE; Lupski, JR; Hunter, JV; Wangler, MF; Carroll, CJ; Yang, YP

Meng, LY; Yang, YP (corresponding author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.

ANNALS OF NEUROLOGY, 2021; 89 (4): 828

Abstract

The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected......

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