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A Novel Missense PRKAR1A Variant Causes Carney Complex.

Endocrinology and metabolism (Seoul, Korea) - 1 Oct 2022

Kim Boram, Jang Han Na, Chae Kyung Shil, Shin Ho Seop, Kim Yong Hwy, Kim Su Jin, Seong Moon-Woo, Kim Jung Hee

Abstract excerpt

The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic...

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Identifiers

PMID: 36193716
DOI: 10.3803/EnM.2022.1544
PMCID: PMC9633213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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