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

Key Clinical Message 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 d...

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Príomhchruthaitheoirí: Arianne S. Wallace, Caitlin M. Hudac, Kyle J. Steinman, Jessica L. Peterson, Trent D. DesChamps, Michael H. Duyzend, Xander Nuttle, Evan E. Eichler, Raphael A. Bernier
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: Wiley 2018-01-01
Sraith:Clinical Case Reports
Ábhair:
Rochtain ar líne:https://doi.org/10.1002/ccr3.1236
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