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Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

Abstract Background Peutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP and intuss...

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Autori principali: Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Jing Li, Xiao-Wei Jin, En-Da Yu, Shou-Bin Ning
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2018-04-01
Serie:BMC Surgery
Soggetti:
Peutz-Jeghers syndrome
STK11 gene
Hamartoma
Polyposis
Enteroscopy
Accesso online:http://link.springer.com/article/10.1186/s12893-018-0357-8
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