Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.
Frontiers in endocrinology(2022)
摘要
In conclusion, mutations affecting genes involved in different pathways (pseudohypoxic and receptor tyrosine kinase signalling) co-occurring in the same patient could provide a selective advantage for the development of PPGL, and explain the variable expressivity and incomplete penetrance observed in some patients.
更多查看译文
关键词
DLST,MDH2,NF1,co-occurrent mutations,germline mutation,pheochromocytoma
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要