A novel germline mutation (c.A527G) in STK11 gene causes Peutz–Jeghers syndrome in a Chinese girl: A case report

RATIONALE: Peutz–Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increa...

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Detalles Bibliográficos
Autores principales: Zhao, Zi-Ye, Jiang, Yu-Liang, Li, Bai-Rong, Yang, Fu, Li, Jing, Jin, Xiao-Wei, Sun, Shu-Han, Ning, Shou-Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
4500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728834/
https://www.ncbi.nlm.nih.gov/pubmed/29245219
http://dx.doi.org/10.1097/MD.0000000000008591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728834/
https://www.ncbi.nlm.nih.gov/pubmed/29245219
http://dx.doi.org/10.1097/MD.0000000000008591

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