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