Fig. 3From: Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigationsSchematic description of the location of the novel pathogenic c.135dup variant in the hypomyelinating leukodystrophy type 10 (HLD10) patientBack to article page