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17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely, rare recurrent CNVs have been found to be causal for many disorders with well-established genotype–phenotype relationships. However, the phenotypic im...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334611/ https://www.ncbi.nlm.nih.gov/pubmed/37430334 http://dx.doi.org/10.1186/s13039-023-00644-2 |