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Article

Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Journal of medical genetics - 1 May 2004

Amos C I, Keitheri-Cheteri M B, Sabripour M, Wei C, McGarrity T J, Seldin M F, Nations L, Lynch P M, Fidder H H, Friedman E, Frazier M L

Abstract excerpt

BACKGROUND AND AIMS: Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder often caused by mutations in STK11. Time to onset of symptoms was characterised for a large collection of individuals with PJS who had been tested for STK11 mutations and genotype-phenotype correlations were evaluated. METHODS: We characterised mutations in 42 independent probands and also used a historical cohort design to study...

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Source

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Identifiers

PMID: 15121768
DOI: 10.1136/jmg.2003.010900
PMCID: PMC1735760

Genes

STK11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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