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A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
BACKGROUND: The minimal critical region in 2q23.1 deletion syndrome comprises one gene only, that is, the methyl‐CpG‐binding domain protein 5 (MBD5) gene. Since the phenotypes of patients with deletions, duplications or pathogenic variants of MBD5 show considerable overlap, the term MBD5‐associated...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687664/ https://ncbi.nlm.nih.gov/pubmed/31290275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.849 |
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