Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants.
Huang L et al.
Frontiers in Genetics, 2023
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
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