Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of medical genetics"
DOI: 10.1136/jmedgenet-2021-108375
Abstract: BACKGROUND A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. METHODS… read more here.
Keywords: clinical genetic; neurodevelopmental syndrome; sox4; hmg domain ... See more keywords