MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

Recurrent missense mutations in the RNA polymerase II Mediator subunit MED12 are associated with X-linked intellectual disability (XLID) and multiple congenital anomalies, including craniofacial, musculoskeletal, and behavioral defects in humans with FG (or Opitz-Kaveggia) and Lujan syndromes. Howev...

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Main Authors: Zhou, Haiying, Spaeth, Jason M., Kim, Nam Hee, Xu, Xuan, Friez, Michael J., Schwartz, Charles E., Boyer, Thomas G.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2012
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511715/
https://ncbi.nlm.nih.gov/pubmed/23091001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1121120109
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