Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation...

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Main Authors: Kurek, Kyle C., Luks, Valerie L., Ayturk, Ugur M., Alomari, Ahmad I., Fishman, Steven J., Spencer, Samantha A., Mulliken, John B., Bowen, Margot E., Yamamoto, Guilherme L., Kozakewich, Harry P.W., Warman, Matthew L.
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Language:English
Published: Elsevier 2012
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC3370283/
https://pubmed.ncbi.nlm.nih.gov/22658544
http://dx.doi.org/10.1016/j.ajhg.2012.05.006
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https://pmc.ncbi.nlm.nih.gov/articles/PMC3370283/
https://pubmed.ncbi.nlm.nih.gov/22658544
http://dx.doi.org/10.1016/j.ajhg.2012.05.006

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