Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. [electronic resource]
- Human molecular genetics Feb 2016
- 546-57 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddv495 doi
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