Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor ( ) gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of variants in two patients wit...

Ausführliche Beschreibung