Fig. 3From: Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disordersPartial electropherograms of the genomic region covering the genes: The heterozygous PMM2 c.241-242del variant. Arrows denote the mutations. a the proband; b the younger affected brother; c the unaffected father; d the unaffected motherBack to article page