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.
|Titolo:||PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report|
|Data di pubblicazione:||2018|
|Appare nelle tipologie:||1.1 Articolo in rivista|