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Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology - 25 Mar 2024

Aslan Pınar Güney, Çağlayan Ahmet Okay, Bora Elçin, Koç Altuğ, Yücel Hilal, Ülgenalp Ayfer, Öztürk Yeşim, Şeker Gül, Akarsu Mesut

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder linked to increased cancer risk due to specific genetic variants in the STK11 gene. This study aimed to assess disease manifestations, genetic profiles, and genotype-phenotype correlations in PJS patients. Twenty patients from 14 families with PJS who were followed up at our clinic between 2011 and 2021 were included. Genetic susceptibility to hereditary...

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Identifiers

PMID: 39115133
DOI: 10.5152/tjg.2024.23262
PMCID: PMC11181252

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