Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. [electronic resource]
Producer: 20071105Description: 1488-94 p. digitalISSN:- 0964-6906
- Animals
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
- Child
- Cytogenetic Analysis
- DNA-Binding Proteins
- Face -- abnormalities
- Female
- Haplotypes
- Humans
- Hyperventilation -- diagnosis
- Intellectual Disability -- diagnosis
- Language Development Disorders -- genetics
- Models, Genetic
- Mutation
- Syndrome
- TCF Transcription Factors -- genetics
- Transcription Factor 4
- Transcription Factor 7-Like 2 Protein
- Transcription Factors
- Zebrafish -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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