Search results for “PRKAR1A”

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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

Li YangCorresponding author

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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