Population
A 33-year-old female patient with Carney complex features and a novel PRKAR1A variant
Design
Case report
Key result
A novel variant in the PRKAR1A gene was identified in a 33-year-old female patient presenting with Carney complex and malignant melanocytic psammomatous schwannoma.
Authors
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Alerts clinicians to PRKAR1A variants in Carney complex with schwannomas; extends spectrum but leaves causality open.
Case Report (n=1)
Reports a novel PRKAR1A gene variant in a patient with Carney complex and malignant psammomatous melanotic schwannoma.
Ares et al. (2026) conducted a case report in Carney complex (n=1). A novel variant in the PRKAR1A gene was identified in a 33-year-old female patient presenting with Carney complex and malignant melanocytic psammomatous schwannoma.