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- Title
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.
- Authors
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
- Abstract
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 overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.
- Subjects
PROTEUS syndrome; SEQUENCE analysis; HYPERPLASIA; SYNDROMES; PHOSPHOINOSITIDES; PATIENTS; DIAGNOSIS
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 7, p1358
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.1546