A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report

Key Points

• The identification of a novel nsd2 pathogenic variant highlights genetic causes of Rauch-Steindl syndrome.
• Clinical examination revealed phenotypic features consistent with Rauch-Steindl syndrome in the patient.
• Genetic sequencing confirmed the presence of the nsd2 pathogenic variant, providing a unique insight into the disorder.
• Understanding such variants may enable better diagnosis and management of similar genetic conditions.