Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. [electronic resource]
Producer: 20090706Description: 669-76 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
- Child
- Child, Preschool
- DNA-Binding Proteins -- chemistry
- Dimerization
- Electroencephalography
- Female
- Gene Expression Profiling
- Gene Expression Regulation, Developmental
- HeLa Cells
- Humans
- Hyperventilation -- pathology
- Immunohistochemistry
- In Situ Hybridization
- Infant
- Intellectual Disability -- pathology
- Luciferases -- genetics
- Magnetic Resonance Imaging
- Male
- Mutation
- Reverse Transcriptase Polymerase Chain Reaction
- Syndrome
- Transcription Factor 4
- Transcription Factors -- chemistry
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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