| Original language | English (US) |
|---|---|
| Pages (from-to) | 685-688 |
| Number of pages | 4 |
| Journal | Journal of Investigative Dermatology |
| Volume | 141 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 2021 |
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Dermatology
- Cell Biology
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Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome. / Thorpe, Jeremy; Frelin, Laurence P.; McCann, Meghan; Pardo, Carlos A.; Cohen, Bernard A.; Comi, Anne M.; Pevsner, Jonathan.
In: Journal of Investigative Dermatology, Vol. 141, No. 3, 03.2021, p. 685-688.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome
AU - Thorpe, Jeremy
AU - Frelin, Laurence P.
AU - McCann, Meghan
AU - Pardo, Carlos A.
AU - Cohen, Bernard A.
AU - Comi, Anne M.
AU - Pevsner, Jonathan
N1 - Funding Information: We thank the individuals with Sturge-Weber syndrome and their families for participating in this study. We are grateful to the National Institutes of Health (NIH) NeuroBioBank for providing us the samples. We thank Macrogen Clinical Laboratories for kindly donating resources (to JP) to perform whole exome sequencing. We thank N. Varg for helpful discussions. AMC was supported by funding from the Celebrate Hope Foundation and the Faneca 66 Foundation. JP was supported by NIH grants U01 MH106884 and U54 HD079123 and by the Sturge-Weber Foundation. This work was supported by grants from the NIH (Lawton, Comi, and Marchuk) (grant number U54NS065705). The Brain Vascular Malformation Consortium (grant number U54NS065705) is a part of the NIH Rare Diseases Clinical Research Network, supported through the collaboration between the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Institute of Neurological Disorders and Stroke. Conceptualization: AMC, JP; Data Curation: JT, JP; Formal Analysis: JT, JP; Funding Acquisition: AMC, JP; Investigation: JT, LPF, MM, CAP, BAC, AMC, JP; Methodology: JT, LPF, MM, CAP, BAC, AMC, JP; Project Administration: AMC, JP; Resources: AMC, JP; Software: JT, JP; Supervision: AMC, JP; Validation: JT, LPF, MM, CAP, BAC, AMC, JP; Visualization: MM, CAP, BAC, AMC; Writing - Original Draft Preparation: JT, AMC, JP; Writing - Review and Editing: AMC, JP Funding Information: We thank the individuals with Sturge-Weber syndrome and their families for participating in this study. We are grateful to the National Institutes of Health (NIH) NeuroBioBank for providing us the samples. We thank Macrogen Clinical Laboratories for kindly donating resources (to JP) to perform whole exome sequencing. We thank N. Varg for helpful discussions. AMC was supported by funding from the Celebrate Hope Foundation and the Faneca 66 Foundation . JP was supported by NIH grants U01 MH106884 and U54 HD079123 and by the Sturge-Weber Foundation . This work was supported by grants from the NIH (Lawton, Comi, and Marchuk) (grant number U54NS065705 ). The Brain Vascular Malformation Consortium (grant number U54NS065705 ) is a part of the NIH Rare Diseases Clinical Research Network, supported through the collaboration between the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Institute of Neurological Disorders and Stroke.
PY - 2021/3
Y1 - 2021/3
UR - http://www.scopus.com/inward/record.url?scp=85091713194&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091713194&partnerID=8YFLogxK
U2 - 10.1016/j.jid.2020.03.978
DO - 10.1016/j.jid.2020.03.978
M3 - Article
C2 - 32771470
AN - SCOPUS:85091713194
VL - 141
SP - 685
EP - 688
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 3
ER -