Fig. 3From: A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case reporta Clinical exome sequencing report of the index case showing a previously unreported mutation c.2423G > A in the POLR3A gene producing an amino acid change p.R808Q. b Electropherograms of the mother and father of the index case. Sequence chromatogram and alignment to the reference sequence showing variation detected in the parentsBack to article page