Article
A case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation.
Endocrine journal - 28 Jun 2022
Nezu Masahiro, Hirotsu Yosuke, Amemiya Kenji, Katsumata Miho, Watanabe Tomomi, Takizawa Soichi, Inoue Masaharu, Mochizuki Hitoshi, Hosaka Kyoko, Oyama Toshio, Omata Masao
Abstract excerpt
In 2008, a familial noradrenergic pheochromocytoma (PCC) with a KIF1B germline mutation in exon 41 was reported in a 24-year-old female proband and her family. However, in 2020, the same research group reported that the cause of PCC in this family was a MAX germline mutation and was not due to the KIF1B mutation. In this study, we investigated the pathogenicity of a KIF1B germline mutation detected in a...
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