DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number

Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation. We have shown that CNV of this chromosome segment causes do...

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Detalles Bibliográficos
Autores principales: Strong, Emma, Mervis, Carolyn B., Tam, Elaine, Morris, Colleen A., Klein-Tasman, Bonita P., Velleman, Shelley L., Osborne, Lucy R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502022/
https://www.ncbi.nlm.nih.gov/pubmed/37709781
http://dx.doi.org/10.1038/s41525-023-00368-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502022/
https://www.ncbi.nlm.nih.gov/pubmed/37709781
http://dx.doi.org/10.1038/s41525-023-00368-7

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