Fig. 4

Box plots expressing severity score at the time of the diagnosis as a function of clinical subgroups (a) or mutated genes (b). Type II CS patients have a significantly lower score (more severe) at the time of the diagnosis than type I CS patients and type III CS patients. Due to the small number of type III patients available the difference between type I and type III does not reach statistical significance. CSA patients have a significantly higher (less severe) score than CSB patients at the time of the diagnosis