PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report

We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA‐related overgrowth spectrum) diagnosis. The overlapping clinical fea...

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Detalles Bibliográficos
Autores principales: Valentini, Virginia, Zelli, Veronica, Rizzolo, Piera, Silvestri, Valentina, Alimandi, Maurizio, D'Aloia, Maria Michela, Giustini, Sandra, Calvieri, Stefano, Richetta, Antonio Giovanni, Monteleone, Giovanni, Ottini, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028416/
https://www.ncbi.nlm.nih.gov/pubmed/29988677
http://dx.doi.org/10.1002/ccr3.1546

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028416/
https://www.ncbi.nlm.nih.gov/pubmed/29988677
http://dx.doi.org/10.1002/ccr3.1546

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