Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches

The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.13% of patients with schizophrenia, in 0.5–0.6% of patient with epilepsy, cognitive impairment, autism spec...

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Detalles Bibliográficos
Autores principales: Granata, Paola, Cocciadiferro, Dario, Zito, Alessandra, Pessina, Chiara, Bassani, Alessandro, Zambonin, Fabio, Novelli, Antonio, Fasano, Mauro, Casalone, Rosario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965081/
https://www.ncbi.nlm.nih.gov/pubmed/35368691
http://dx.doi.org/10.3389/fgene.2022.798607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965081/
https://www.ncbi.nlm.nih.gov/pubmed/35368691
http://dx.doi.org/10.3389/fgene.2022.798607

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