Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

BACKGROUND: ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might result i...

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Detalles Bibliográficos
Autores principales: Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487024/
https://www.ncbi.nlm.nih.gov/pubmed/31029150
http://dx.doi.org/10.1186/s13148-019-0658-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487024/
https://www.ncbi.nlm.nih.gov/pubmed/31029150
http://dx.doi.org/10.1186/s13148-019-0658-5

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