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. 2013 Sep 18;22(5):594–601. doi: 10.1038/ejhg.2013.207

Figure 2.

Figure 2

GNPTAB c.10A>C/p.K4Q ML clinical features in five siblings: Similar findings as in Figure 1 are shown early and late in disorder's natural course. D: Patient 4 at 21.5 years; E: Patient 5 at 20 years; F: Patient 6 at 17.5 years; G: Patient 7 at 7.5 years; H: Patient 8 at 6 years.