Caricamento...

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the “epigene...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Am J Hum Genet
Autori principali: Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777983/
https://ncbi.nlm.nih.gov/pubmed/29304373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.008
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !