Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. [electronic resource]
Producer: 20161213Description: 546-57 p. digitalISSN:- 1460-2083
- Adolescent
- Base Sequence
- Child
- DNA -- genetics
- Developmental Disabilities -- genetics
- Exome
- Female
- Forkhead Transcription Factors -- genetics
- Gene Expression Regulation
- High-Throughput Nucleotide Sequencing
- Humans
- Hypertelorism -- genetics
- Intellectual Disability -- genetics
- Language Development Disorders -- genetics
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Protein Binding
- Repressor Proteins -- genetics
- Signal Transduction
- Transcription, Genetic
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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