Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

BACKGROUND: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X‐linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3‐dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465656/
https://ncbi.nlm.nih.gov/pubmed/30729724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.569
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