7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.
Liliya SkvortsovaAnastassiya PerfilyevaKira B BespalovaYelena KuzovlevaNailya KabyshevaOzada KhamdiyevaPublished in: Orphanet journal of rare diseases (2024)
Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies.