Article
A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review.
Frontiers in endocrinology - 1 Jan 2020
Chang Xiaoyan, Li Zelin, Ma Xiaosen, Cui Yunying, Chen Shuchun, Tong Anli
Abstract excerpt
Background:MYC associated factor X (MAX) is a tumor suppressor gene and has been identified as one of the pathogenic genes of hereditary pheochromocytoma (PCC). To date, there have been no reports of ganglioneuroma (GN) with MAX variants. Case Presentation: The proband was a 45-years-old Chinese female with paroxysmal hypertension and palpitations who had undergone adrenalectomy for PCC 14 years ago. Her plasma...
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