Characterization of a Severe Case of PIK3CA-related Overgrowth at Autopsy by Droplet Digital PCR and Report of PIK3CA Sequencing in 22 Patients

PIK3CA-related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic malformations. Clinical and molecular diagnosis can be challenging due to phenotypic heterogeneity and difficulties detecting low-level mosaic...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Piacitelli, Andrew M, Jensen, Dana M, Brandling-Bennett, Heather, Mariner Gray, Megan, Batra, Maneesh, Gust, Juliane, Thaker, Ameet, Paschal, Catherine, Tsuchiya, Karen, Pritchard, Colin C., Perkins, Jonathan, Mirzaa, Ghayda M, Bennett, James T
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6290925/
https://ncbi.nlm.nih.gov/pubmed/30063105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40487
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