학술논문
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.
Document Type
Case Study
Author
Source
Subject
*PROTEUS syndrome
*SEQUENCE analysis
*HYPERPLASIA
*SYNDROMES
*PHOSPHOINOSITIDES
*PATIENTS
*DIAGNOSIS
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Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]