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Hong et al. J Transl Genet Genom 2018;2:8. I  https://doi.org/10.20517/jtgg.2018.06                                                      Page 3 of 9

                             A

















                             B


















                             C



















                             D






                                     Proband (chr21:46320235...  Father (chr21:46320235...  Mother (chr21:46320235...
                                   Normal             Normal              Normal







               Figure 1. A: The sequencing exposes a homozygous mutation c.817G>A (p.G273R) in ITGB2 gene in the proband; B: his father carries the
               mutation; C: his mother does not carry the mutation; D: normal is the control of QPCR for chr21:46320235-46320435, showing that the
               mother is normal
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