A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

Conclusion: We report a family with a new clinical phenotype of germline pathogenic variants in MAX who developed both PCC and GN. Germline pathogenic variants in MAX may contribute to the development of GN. Our findings suggest that it is not just paternally inherited MAX variants that can cause tumors.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research