Ontology highlight
ABSTRACT:
SUBMITTER: Wu BD
PROVIDER: S-EPMC7240661 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Wu Bo-Da BD Wang Yong-Jun YJ Fan Liang-Liang LL Huang Hui H Zhou Peng P Yang Mei M Shi Xiao-Liu XL
BioMed research international 20200511
<h4>Background</h4>Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the <i>STK11</i> gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.<h4>Aims</h4>We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations.<h4>Methods</h4>Thirty-eight patients clinically diagnosed with Peutz-Jeghers syndrome ...[more]