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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049494/
https://www.ncbi.nlm.nih.gov/pubmed/33819264
http://dx.doi.org/10.1371/journal.pgen.1009112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049494/
https://www.ncbi.nlm.nih.gov/pubmed/33819264
http://dx.doi.org/10.1371/journal.pgen.1009112

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