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

Key Clinical Message 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 ove...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Clinical case reports 2018-07, Vol.6 (7), p.1358-1363
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Case Reports Fibroadipose hyperplasia molecular testing next generation sequencing overgrowth syndromes PIK3CA
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!