Associated Papers
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing.
Jiang H et al.
Molecular Genetics & Genomic Medicine, 2025
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].
Jing XW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
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