Case report
Open access
Aug 2026
Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls
In adult neurology practice, developmental history, palatal or craniofacial abnormalities, basal ganglia calcification, psychiatric symptoms, and family history should prompt consideration of 22q11.2DS and genetic testing that is sensitive to copy-number variants.
Da-Ren Wu, Yue-Miao Wang, Dan-Dan Sun et al.
· Frontiers in Neurology · 0 citations