Ontology highlight
ABSTRACT:
SUBMITTER: Sweatt JD
PROVIDER: S-EPMC3674405 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Experimental & molecular medicine 20130503
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS ...[more]