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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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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2016
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| Matèries: | |
| Accés en línia: | 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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