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Novel PRKAR1A mutation in Carney complex: a case report and literature review.

Frontiers in endocrinology - 1 Jan 2024

Zheng Huaqiang, Kang Hong, Qiu Yizhen, Xie Liangxiao, Wu Jinzhi, Lai Pengbin, Kang Jiapeng

Abstract excerpt

Objective: Carney complex is a rare autosomal dominant syndrome that has been shown to be associated with inactivation due to PRKAR1A mutations. We revealed a novel PRKAR1A gene mutation in Chinese patient with Carney complex and review the literature to enhance understanding of Carney complex. Case presentation: A 23-year-old Chinese male patient with a family history cardiac myxoma was admitted to our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39050568
DOI: 10.3389/fendo.2024.1384956
PMCID: PMC11266075

Provenance

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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