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Article

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Human mutation - 1 Jul 2002

Resta N, Stella A, Susca F C, Di Giacomo M, Forleo G, Miccolis I, Rossini F P, Genuardi M, Piepoli A, Grammatico P, Guanti G

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disorder with variable expression and incomplete penetrance characterized by mucocutaneous pigmentation, predisposition to hamartomatous intestinal polyposis, and various other neoplasms. It occurs in approximately 1 in 8,300 to 29,000 live births. In nearly 50% of patients PJS is caused by germ line mutations in the STK11/LKB1 serine/threonine...

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Identifiers

PMID: 12112668
DOI: 10.1002/humu.9046

Genes

STK11

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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