DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

BACKGROUND: Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, inc...

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Detalles Bibliográficos
Autores principales: Schenkel, L. C., Aref-Eshghi, E., Rooney, K., Kerkhof, J., Levy, M. A., McConkey, H., Rogers, R. C., Phelan, K., Sarasua, S. M., Jain, L., Pauly, R., Boccuto, L., DuPont, B., Cappuccio, G., Brunetti-Pierri, N., Schwartz, C. E., Sadikovic, B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789817/
https://www.ncbi.nlm.nih.gov/pubmed/33407854
http://dx.doi.org/10.1186/s13148-020-00990-7

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