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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
There have been dramatic improvements in our ability to more accurately diagnose the underlying genetic causes of developmental delay/intellectual disability; however, there is less known about the treatment trajectory and whether or not patient management and outcomes have changed due to the inform...
Autores principales: | Dwivedi, Alka Chaubey nee, Lyons, Michael J, Kwiatkowski, Kat, Bartel, Frank O, Friez, Michael J, Holden, Kenton R, Fung, Eric T, DuPont, Barbara R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271515/ https://www.ncbi.nlm.nih.gov/pubmed/25530805 http://dx.doi.org/10.1186/s13039-014-0093-4 |
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