Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype dat...

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Detalles Bibliográficos
Autores principales: Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A., Bassett, Anne S., Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R., Prasad, Aparna, Serrano, Moises A., Stavropoulos, D. James, Twede, Hope, Vermeesch, Joris R., Vorstman, Jacob A. S., Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366120/
https://www.ncbi.nlm.nih.gov/pubmed/30732576
http://dx.doi.org/10.1186/s11689-019-9263-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366120/
https://www.ncbi.nlm.nih.gov/pubmed/30732576
http://dx.doi.org/10.1186/s11689-019-9263-3

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