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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Cytogenet
Prif Awduron: Dwivedi, Alka Chaubey nee, Lyons, Michael J, Kwiatkowski, Kat, Bartel, Frank O, Friez, Michael J, Holden, Kenton R, Fung, Eric T, DuPont, Barbara R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2014
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4271515/
https://ncbi.nlm.nih.gov/pubmed/25530805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0093-4
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