Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

Structural reorganization of chromosomes by genomic duplications and/or deletions are known as copy number variations (CNVs). Pathogenic and disease susceptible CNVs alter gene dosage and its phenotypic expression that often leads to human genetic diseases including Neurological disorders. CNVs affe...

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Detalles Bibliográficos
Autores principales: Mudassir, Behjat Ul, Alotaibi, Mashael Alhumaidi, Kizilbash, Nadeem, Alruwaili, Daliyah, Alruwaili, Anwar, Alenezi, Modhi, Agha, Zehra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558996/
https://www.ncbi.nlm.nih.gov/pubmed/37810058
http://dx.doi.org/10.1016/j.heliyon.2023.e19718

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558996/
https://www.ncbi.nlm.nih.gov/pubmed/37810058
http://dx.doi.org/10.1016/j.heliyon.2023.e19718

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