PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, in...

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Detalles Bibliográficos
Publicado en:Am J Med Genet A
Main Authors: Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado: 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4480633/
https://ncbi.nlm.nih.gov/pubmed/25557259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36836
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