Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [electronic resource]
Producer: 20190521Description: e00569 p. digitalISSN:- 2324-9269
- Adult
- Basic Helix-Loop-Helix Transcription Factors -- genetics
- Bone Morphogenetic Protein 4 -- genetics
- Cells, Cultured
- Craniofacial Abnormalities -- genetics
- Cyclic AMP Response Element-Binding Protein A -- genetics
- Hedgehog Proteins -- genetics
- Humans
- Male
- Mediator Complex -- chemistry
- X-Linked Intellectual Disability -- genetics
- Middle Aged
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Pedigree
- Protein Domains
- Signal Transduction
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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