Fig. 5From: Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 geneSanger sequencing profile of our patients showing: a homozygous substitution c.1088G > A [p.Arg363Gln] mutation compared to a healthy control; b non-pathogenic variant c.300 + 3A > G at the homozygous state compared to a healthy controlBack to article page