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Article

Findings from the Peutz-Jeghers syndrome registry of uruguay.

PloS one - 1 Jan 2013

Tchekmedyian Asadur, Amos Christopher I, Bale Sherri J, Zhu Dakai, Arold Stefan, Berrueta Joaquin, Nabon Natalie, McGarrity Thomas

Abstract excerpt

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. METHODS: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in...

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Identifiers

PMID: 24260271
DOI: 10.1371/journal.pone.0079639
PMCID: PMC3834183

Genes

STK11

Variants

Provenance

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