In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome caused by a VHL gene mutation. Here we report a novel mutation of VHL in a patient diagnosed with malignant pheochromocytoma at the age of 17. A 17-year-old female was referred for paroxysmal supraventricular tachyca...

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Veröffentlicht in:	Endocrine practice 2014-06, Vol.20 (6), p.e96-e101
Hauptverfasser:	Kawashima, Sachiko-Tsukamoto, Usui, Takeshi, Tenjin, Ayumi, Asai, Shiko, Tanaka, Yasushi, Hoshikawa, Masahiro, Shimatsu, Akira, Katabami, Takuyuki
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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