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Article

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

BMC medical genetics - 8 Nov 2016

Tan Hu, Mei Libin, Huang Yanru, Yang Pu, Li Haoxian, Peng Ying, Chen Chen, Wei Xianda, Pan Qian, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine-threonine kinase 11 gene (SKT11) are the major cause of PJS. CASE PRESENTATION: Blood samples were collected from six PJS families including eight patients. Mutation screening...

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Identifiers

PMID: 27821076
DOI: 10.1186/s12881-016-0339-6
PMCID: PMC5100203

Genes

STK11

Variants

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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