MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism

The RNA polymerase II transcription subunit 12 homolog (MED12) is a member of the mediator complex, which plays a critical role in RNA transcription. Mutations in MED12 cause X-linked intellectual disability and other anomalies collectively grouped as MED12-related disorders. While MED12 mutations h...

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Detalles Bibliográficos
Autores principales: Wang, Chao, Lin, Longlong, Xue, Yan, Wang, Yilin, Liu, Zhao, Ou, Zicheng, Wu, Shengnan, Lan, Xiaoping, Zhang, Yuanfeng, Yuan, Fang, Luo, Xiaona, Wang, Chunmei, Xi, Jiaming, Sun, Xiaomin, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056888/
https://www.ncbi.nlm.nih.gov/pubmed/32174975
http://dx.doi.org/10.3389/fgene.2020.00129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056888/
https://www.ncbi.nlm.nih.gov/pubmed/32174975
http://dx.doi.org/10.3389/fgene.2020.00129

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