Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis, Elliot

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