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Spectrum of HIVEP2 variants in the three patients. (a) Exon and intron region sizes are based on Ensembl (http://useast.ensembl.org/Homo_sapiens/Transcript/Exons?db=core;g=ENSG00000010818;r=6:142751467-142945201;t=ENST00000367603). (b) Portrait and (c) profile view of patient 1 at 4 years of age. (d) Portrait and (e) profile view of patient 2 at 26 months of age.
