A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. STK11 has been identified as a causative gene for this disease. CASE PRESENTATION: Herein we report a Chinese Han kindred with PJS. Onset for th...

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Detalles Bibliográficos
Autores principales: Chen, Jing-Hui, Zheng, Jing-Jing, Guo, Qin, Liu, Chao, Luo, Bin, Tang, Shuang-Bo, Cheng, Jian-Ding, Huang, Er-Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324205/
https://www.ncbi.nlm.nih.gov/pubmed/28231849
http://dx.doi.org/10.1186/s12881-017-0373-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324205/
https://www.ncbi.nlm.nih.gov/pubmed/28231849
http://dx.doi.org/10.1186/s12881-017-0373-z

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