Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. [electronic resource]
Producer: 20170210Description: 310-4 p. digitalISSN:- 1878-0849
- 5' Untranslated Regions
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors -- genetics
- Exons -- genetics
- Facies
- Female
- Humans
- Hyperventilation -- genetics
- Intellectual Disability -- genetics
- Male
- Pedigree
- Phenotype
- Point Mutation -- genetics
- Transcription Factor 4
- Transcription Factors -- genetics
- Transcription, Genetic
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Publication Type: Journal Article
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