Fig. 2From: The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonateGenomic DNA sequence of the SETBP1 gene in the proband and his parents. The patient exhibited a missense mutation, c.2608G > A, indicated by red arrow, whereas his unaffected parents carried the wild-type alleleBack to article page