Phenotypic and Genotypic Heterogeneity of RRM2B Variants.

Abstract excerpt

OBJECTIVES: Genotype and phenotype of RRM2B mutation have become increasingly heterogeneous. This review aims at summarizing recent advances concerning the genotypic and phenotypic variability of RRM2B mutations. METHOD: The review evaluated clinical and instrumental data of 82 patients carrying a mutation in the RRM2B gene reported in 18 publications with regard to onset, frequency, and type of clinical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Cycle Proteins
• Share to Genotype
• Share to Heterozygote