Ding Hai-Xuan, Zhao Xin-Lan, Huang Ling-Yun, Jiang Yue, Yang Li, A New Gene Mutation of PRKAR1A was found in a Carney Complex Case, Journal of Clinical Case Reports and Images, Volume 2, Issue 2, 2021, Pages 1-8, ISSN 2641-5518, https://doi.org/10.14302/issn.2641-5518.jcci-21-3914.
(https://oap-researcharticles.org/jcci/article/1678)
Abstract: 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.
Keywords: Carney complex; Cushing's syndrome; PPNAD; PRKAR1A