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

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 intussusceptio...

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Detalles Bibliográficos
Autores principales: Zhao, Zi-Ye, Jiang, Yu-Liang, Li, Bai-Rong, Li, Jing, Jin, Xiao-Wei, Yu, En-Da, Ning, Shou-Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914036/
https://www.ncbi.nlm.nih.gov/pubmed/29685139
http://dx.doi.org/10.1186/s12893-018-0357-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914036/
https://www.ncbi.nlm.nih.gov/pubmed/29685139
http://dx.doi.org/10.1186/s12893-018-0357-8

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