Article
Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.
World journal of gastroenterology - 7 Jun 2023
Jiang Li-Xin, Chen Yu-Rui, Xu Zu-Xin, Zhang Yu-Hui, Zhang Zhi, Yu Peng-Fei, Dong Zhi-Wei, Yang Hai-Rui, Gu Guo-Li
Abstract excerpt
BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS...
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