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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… Click to show full abstract
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 FG syndrome and Lujan syndrome. How are SHH‐signaling defects related to the complex clinical phenotype of MED12‐associated XLID syndromes are not fully understood.
Keywords:
intellectual disability;
linked intellectual;
med12;
sonic hedgehog
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!