Article
Carney complex with PRKAR1A gene mutation: A case report and literature review.
Medicine - 1 Dec 2017
Liu Qiuli, Tong Dali, Liu Gaolei, Yi Yuting, Zhang Dianzheng, Zhang Jun, Zhang Yao, Huang Zaoming, Li Yaoming, Chen Rongrong, Guan Yanfang, Yi Xin, Jiang Jun
Abstract excerpt
RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1...
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