Associated Papers
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
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
González-Ortega G et al.
Journal of Alzheimer's Disease : Jad, 2021
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31723249 (PubMed )
Supplement: NIHMS1543809-supplement-Supplementary_data__clean_version_.docx
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
Verhoeven W et al.
Molecular Genetics & Genomic Medicine, 2019
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