Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents. We hypothesized that the 16p12.1 de...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Pizzo, Lucilla, Lasser, Micaela, Yusuff, Tanzeen, Jensen, Matthew, Ingraham, Phoebe, Huber, Emily, Singh, Mayanglambam Dhruba, Monahan, Connor, Iyer, Janani, Desai, Inshya, Karthikeyan, Siddharth, Gould, Dagny J., Yennawar, Sneha, Weiner, Alexis T., Pounraja, Vijay Kumar, Krishnan, Arjun, Rolls, Melissa M., Lowery, Laura Anne, Girirajan, Santhosh
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8049494/
https://ncbi.nlm.nih.gov/pubmed/33819264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009112
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