Fig. 3From: A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case reportDeletion breakpoint localization. Reads quantification in position chr16:8,897,826–8,968,278 of the family members. A deletion of 70453pb is seen for the proband and the mother. The genes affected by the deletion are named on the bottom of the figureBack to article page