ArticleAnnals of surgical treatment and research2014
Peutz-Jeghers syndrome with germline mutation of STK11.
Article in Annals of surgical treatment and research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 39 citations in OpenAlex.
- Peutz-Jeghers syndrome withoutWorld journal of gastroenterology · 2023Trial
- Recalcitrant intussusception: exploring potential associations with Helicobacter pylori infection - a case report and literature review.Gut pathogens · 2024Article
- The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.Current issues in molecular biology · 2023Article
- The landscape of tolerated genetic variation in humans and primates.Science (New York, N.Y.) · 2023Article
- The landscape of tolerated genetic variation in humans and primates.bioRxiv : the preprint server for biology · 2023Article
- Review
- A novel AMPK activator shows therapeutic potential in hepatocellular carcinoma by suppressing HIF1α-mediated aerobic glycolysis.Molecular oncology · 2022Article
- Genetics and the Gynecologic Patient.Ochsner journal · 2020Review
- Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.Frontiers in oncology · 2019Article
- Molecular cloning, polymorphism, and expression analysis of the LKB1/STK11 gene and its association with non-specific digestive disorder in rabbits.Molecular and cellular biochemistry · 2018Article
- Microsatellite instability in colorectal cancer.EXCLI journal · 2018Review
- Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome.Experimental and therapeutic medicine · 2017Article
- Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant.World journal of gastroenterology · 2016Article
- [Peutz-Jeghers syndrome manifested as massive melæna at CHU-JRA Madagascar hospital: a case report].The Pan African medical journal · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.