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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687664/ https://www.ncbi.nlm.nih.gov/pubmed/31290275 http://dx.doi.org/10.1002/mgg3.849 |