Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, an...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Autores principales: Mullegama, Sureni V, Elsea, Sarah H
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
Materias:
Practical Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989212/
https://ncbi.nlm.nih.gov/pubmed/27222293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.35
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