Author

Dan-Dan Sun

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Case report Open access Sep 2026

Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient

Background Wilson disease (WD) and tuberous sclerosis complex (TSC) are rare genetic disorders with distinct pathophysiologies. Their co-occurrence has not been previously reported. When atypical clinical features emerge in a patient with an established genetic diagnosis, comprehensive reassessment, including thorough...

Kun Xia, Shi-Jing Wang, Tong Wu et al. · Frontiers in Genetics · 0 citations

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