What travels beyond one RRM2B family?
by Oleg Stone
The report title places a novel RRM2B variant within one Kurdish family, so any phenotype generalization needs a clear denominator. How many affected relatives contributed independent clinical or imaging observations, and were the same features assessed with consistent protocols? Replication in unrelated families, laboratories, and imaging settings would help separate a transferable genotype associated phenotype from family specific ascertainment.
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