Ontology highlight
ABSTRACT:
SUBMITTER: Grosse M
PROVIDER: S-EPMC9964377 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Grosse Martin M Kuechler Alma A Dabir Tabib T Spranger Stephanie S Beck-Wödl Stefanie S Bertrand Miriam M Haack Tobias B TB Grasemann Corinna C Manka Eva E Depienne Christel C Kaiser Frank J FJ
International journal of molecular sciences 20230209 4
SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and exerts its function via interaction with other transcription factors, such as POU3F2. Recently, pathogenic <i>SOX4</i> variants have been identified in several patients who had clinical features overlapping with Coffin-Siris syndrome. In this study, we identified three novel variants in un ...[more]