Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient

BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. CASE PRESENTATION: We reported an isolated PJS patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Zi-Ye, Jiang, Yu-Liang, Li, Bai-Rong, Yang, Fu, Li, Jing, Jin, Xiao-Wei, Ning, Shou-Bin, Sun, Shu-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688745/
https://www.ncbi.nlm.nih.gov/pubmed/29141581
http://dx.doi.org/10.1186/s12881-017-0471-y

Ejemplares similares

Ejemplares similares