Fig. 2: Genetic analysis of the family.
From: A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
a Schematic representation of the RNASEH2B gene, with the position of the identified mutation. The colored boxes with numbers represent exons, and the horizontal lines represent introns. b Family pedigree. c Trio-based clinical genome sequencing showing the c.65-13G > A variant in RNASEH2B. DNA sequence electrophoretograms of the homozygous proband and heterozygous parents.
