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Article

A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.

BMC gastroenterology - 22 Dec 2022

Yu Zhen, Liu Lin, Jiang Fang, Ji Yimin, Wang Xiao, Liu Lili

Abstract excerpt

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. This study aimed to diagnose a Chinese pedigree with PJS and to expand the spectrum of STK11 variants. METHODS: We performed an inductive analysis of clinical features, gastrointestinal endoscopy, radiologic imaging, and pathological findings in a Chinese...

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Identifiers

PMID: 36550395
DOI: 10.1186/s12876-022-02617-y
PMCID: PMC9784088

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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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