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Article

Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.

BMJ case reports - 1 Oct 2015

Brito Sara, Póvoas Marta, Dupont Juliette, Lopes Ana Isabel

Abstract excerpt

Genetic heterogeneity has been recognised in Peutz-Jeghers syndrome (PJS) (over 230 STK11 gene mutations reported). We report a rare PJS phenotype with early extensive gastrointestinal (GI) presentation and a new genetic variant. The case presented as haematochezia and mucocutaneous pigmentation (the patient was 3 years of age). Endoscopy showed several polyps throughout the stomach/colon (PJ-type hamartomas);...

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Identifiers

PMID: 26430231
DOI: 10.1136/bcr-2015-211345
PMCID: PMC4600779

Genes

STK11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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