Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

@article{Welander2014RareGM,
  title={Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.},
  author={Jenny Welander and Adam Andreasson and C Christofer Juhlin and Roger Wiseman and Martin B{\"a}ckdahl and Anders H{\"o}{\"o}g and Catharina Larsson and O Gimm and Peter S{\"o}derkvist},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2014},
  volume={99 7},
  pages={E1352-60}
}
CONTEXT Pheochromocytomas and paragangliomas have a highly diverse genetic background, with a third of the cases carrying a germline mutation in 1 of 14 identified genes. OBJECTIVE This study aimed to evaluate next-generation sequencing for more efficient genetic testing of pheochromocytoma and paraganglioma and to establish germline and somatic mutation… CONTINUE READING