The Journal of Clinical Endocrinology & Metabolism: Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
April 9, 2019
Shahida K Flores, Ziming Cheng, Angela M Jasper, Keiko Natori, Takahiro Okamoto, Akiyo Tanabe, Koro Gotoh, Hirotaka Shibata, Akihiro Sakurai, Takuya Nakai, Xiaojing Wang, Magnus Zethoven, Shiva Balachander, Yuichi Aita, William Young, Jr., Siyuan Zheng, Kazuhiro Takekoshi, Eijiro Nakamura, Richard W Tothill, Ricardo C T Aguiar, Patricia L M Dahia Abstract Context von Hippel-Lindau (VHL) disease, comprising renal cancer, hemangioblastoma, and/or pheochromocytoma (PHEO), is caused by missense or truncating variants of the VHL tumor-suppressor gene, which […]