Background Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in ...
This large retrospective study focused on different organ involvement ... CHB, central nervous system hemangioblastoma; RA, retinal hemangioblastoma; RCC, renal cell carcinoma; PHEO, pheochromocytoma; ...