Longitudinal report of child with de novo 16p11.2 triplication

16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with...

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Bibliografske podrobnosti
izdano v:Clin Case Rep
Main Authors: Wallace, Arianne S., Hudac, Caitlin M., Steinman, Kyle J., Peterson, Jessica L., DesChamps, Trent D., Duyzend, Michael H., Nuttle, Xander, Eichler, Evan E., Bernier, Raphael A.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Case Reports
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771938/
https://ncbi.nlm.nih.gov/pubmed/29375855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1236
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