New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with...

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Detalhes bibliográficos
Principais autores: Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Formato: Online Atigo Texto
Idioma:English
Publicado em: BioMed Central 2019
Assuntos:
Research Article
Acesso em linha:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617651/
https://www.ncbi.nlm.nih.gov/pubmed/31288860
http://dx.doi.org/10.1186/s12920-019-0555-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617651/
https://www.ncbi.nlm.nih.gov/pubmed/31288860
http://dx.doi.org/10.1186/s12920-019-0555-y

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