Ontology highlight
ABSTRACT:
SUBMITTER: Lozano R
PROVIDER: S-EPMC8066957 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Lozano Reymundo R Gbekie Catherine C Siper Paige M PM Srivastava Shubhika S Saland Jeffrey M JM Sethuram Swathi S Tang Lara L Drapeau Elodie E Frank Yitzchak Y Buxbaum Joseph D JD Kolevzon Alexander A
Journal of neurodevelopmental disorders 20210423 1
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital an ...[more]