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
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
MBD5-related intellectual disability in a Vietnamese child.
Le TNU et al.
American Journal of Medical Genetics. Part A, 2021
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