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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Detalles Bibliográficos
Autores principales: Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
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

Internet

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

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