Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features
| Authors | Li Li, Zhang Jie, Shi Xiaoyan, Huang Yaqing, Chang Xingzhi, Zhang Liya |
|---|---|
| Journal | Frontiers in Genetics |
| Publication Date | 2025-11-06 |
| DOI | 10.3389/fgene.2025.1699311 |