Rare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation
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چکیده
منابع مشابه
Rare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation
UNLABELLED Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the PRKAR1A gene have been identified in ∼70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a hist...
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متن کاملCarney complex with PRKAR1A gene mutation
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 p...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2014
ISSN: 2052-0573
DOI: 10.1530/edm-14-0023