Search results for “Carney complex”

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Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing articles matching Carney complex — open any to read the full text, or download the PDF or XML.

1 article
Clinical Case Reports and Images Open Access

A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

Aug 2021 DOI 10.14302/issn.2641-5518.jcci-21-3914
Yang LiCorresponding author Department of Endocrinology, Hunan Provincial People's Hospital (The First Affiliated Hospital of Hunan Normal University), Changsha, Hunan 410000, China.

A patient with Carney complex is reported with a previously undescribed PRKAR1A mutation. The article situates the variant within PKA pathway biology and clinical phenotype, underscoring the value of genetic testing for diagnosis, counseling, and surveillance.

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