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Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
BACKGROUND: Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test. RESULTS: Samples from 30 patients with multiple congenital anomaly and/or ment...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537423/ https://www.ncbi.nlm.nih.gov/pubmed/31149029 http://dx.doi.org/10.1186/s13039-019-0436-2 |