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Observational Study
. 2021 Mar;141(3):685-688.
doi: 10.1016/j.jid.2020.03.978. Epub 2020 Aug 7.

Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome

Jeremy Thorpe  1 , Laurence P Frelin  2 , Meghan McCann  2 , Carlos A Pardo  3 , Bernard A Cohen  4 , Anne M Comi  5 , Jonathan Pevsner  6
Affiliations
Observational Study

Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome

Jeremy Thorpe et al. J Invest Dermatol. 2021 Mar.
No abstract available

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Conflict of interest statement

Conflict of Interest Statement

The authors declare no conflicts of interest.

Figures

Figure 1.
Figure 1.
Hematoxylin and eosin stained sections from post-mortem cortex of Case SWS 2. A. Low magnification image of the superficial cerebral cortex and leptomeninges. Abnormally dilated venous vessels and degenerating arteriolar vessels seen, along with evidence of calcification. B. High magnification of thickened leptomeninges. C. Detailed image of meningeal calcification (arrows). D. High magnification images of leptomemingeal macrophages accumulated in the subarachnoid compartment (arrows). All images bar magnification 20 μM.
See this image and copyright information in PMC

References

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