A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.
César Ernesto Lam-ChungLarissa López RodríguezJazmín Arteaga VázquezYanin Chávarri-GuerraRebeca Arízaga-RamírezOrlando Falcon AntonioJazmín De Anda GonzálezMaría Aurelia López-HernándezJeffrey N WeitzelDanielle CastilloFrancisco Javier Gómez-PérezDaniel Cuevas-RamosPublished in: Journal of the Endocrine Society (2021)
The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c0.64-2A > G mutation is reported here and should be considered in the diagnostic workup of similar cases.
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