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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370283/
https://ncbi.nlm.nih.gov/pubmed/22658544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.006
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